NEWHagihara H*, Shoji H, Hattori S, Sala G, Takamiya Y, Tanaka M, Ihara M, Shibutani M, Hatada I, Hori K, Hoshino M, Nakao A, Mori Y, Okabe S, Matsushita M, Urbach A, Katayama Y, Matsumoto A, Nakayama KI, Katori S, Sato T, Iwasato T, Nakamura H, Goshima Y, Raveau M, Tatsukawa T, Yamakawa K, Takahashi N, Kasai H, Inazawa J, Nobuhisa I, Kagawa T, Taga T, Darwish M, Nishizono H, Takao K, Sapkota K, Nakazawa K, Takagi T, Fujisawa H, Sugimura Y, Yamanishi K, Rajagopal L, Hannah ND, Meltzer HY, Yamamoto T, Wakatsuki S, Araki T, Tabuchi K, Numakawa T, Kunugi H, Huang FL, Hayata-Takano A, Hashimoto H, Tamada K, Takumi T, Kasahara T, Kato T, Graef IA, Crabtree GR, Asaoka N, Hatakama H, Kaneko S, Kohno T, Hattori M, Hoshiba Y, Miyake R, Obi-Nagata K, Hayashi-Takagi A, Becker LJ, Yalcin I, Hagino Y, Kotajima-Murakami H, Moriya Y, Ikeda K, Kim H, Kaang BK, Otabi H, Yoshida Y, Toyoda A, Komiyama NH, Grant SGN, Ida-Eto M, Narita M, Matsumoto KI, Okuda-Ashitaka E, Ohmori I, Shimada T, Yamagata K, Ageta H, Tsuchida K, Inokuchi K, Sassa T, Kihara A, Fukasawa M, Usuda N, Katano T, Tanaka T, Yoshihara Y, Igarashi M, Hayashi T, Ishikawa K, Yamamoto S, Nishimura N, Nakada K, Hirotsune S, Egawa K, Higashisaka K, Tsutsumi Y, Nishihara S, Sugo N, Yagi T, Ueno N, Yamamoto T, Kubo Y, Ohashi R, Shiina N, Shimizu K, Higo-Yamamoto S, Oishi K, Mori H, Furuse T, Tamura M, Shirakawa H, Sato DX, Inoue YU, Inoue T, Komine Y, Yamamori T, Sakimura K, Miyakawa T*.
Large-scale animal model study uncovers altered brain pH and lactate levels as a transdiagnostic endophenotype of neuropsychiatric disorders involving cognitive impairment. Elife. 12:RP89376. (2024)
PMID: PMID: 38529532. doi: 10.7554/eLife.89376.
NEWIshihara K*, Sakoda R, Mizoguchi M, Fujita M, Moyama C, Okutani Y, Kazuyuki Takata, Tanaka M, Minami T, Sago H, Yamakawa K, Nakamura T, Kawashita E, Akiba S, Nakata S*.
Suppression of Sleeping Beauty-induced gliomagenicity in Ts1Cje mice, a model of Down syndrome. Anticancer Res. 44: 489-495.(2024)
PMID: 38307564 doi: 10.21873/anticanres.16836
NEWDewa K, Arimura N*, Kakegawa W, Itoh M, Adachi T, Miyashita S, Inoue UY, Hizawa K, Hori K, Honjoya N, Yagishita H, Taya S, Miyazaki T, Usui C, Tatsumoto S, Tsuzuki A, Uetake H, Sakai K, Yamakawa K, Sasaki T, Nagai J, Kawaguchi Y, Sone M, Inoue T, Go Y, Ichinohe N, Kaibuchi K, Watanabe M, Koizumi S, Yuzaki M, Hoshino M*.
Neuronal DSCAM regulates the peri-synaptic localization of GLAST in Bergmann glia for functional synapse formation. Nat. Commun. 15(1):458. (2024)
PMID: 38302444 doi: 10.1038/s41467-023-44579-z
NEWSuzuki T*, Hattori S, Mizukami H, Nakajima R, Hibi Y, Kato S, Matsuzaki M, Miyakawa T, Ikebe R, Yamakawa K.
Inversed effects of Nav1.2 deficiency at medial prefrontal cortex and ventral tegmental area for prepulse inhibition in acoustic startle response. Mol. Neurobiol. 61(2):622-634.(2024), Epub 2023 Aug 31.
PMID: 37650965 doi: 10.1007/s12035-023-03610-6
NEWToker D, Müller E, Miyamoto H, Riga SM, Lladó-Pelfort L, Yamakawa K, Artigas F, Shine MJ, Hudson EA, Pouratian N*, Monti MM*.
Criticality supports cross-frequency cortical-thalamic information transfer during conscious states. eLife. 13:e86547. (2024).
PMID: 38180472 doi: 10.7554/eLife.86547
International League Against Epilepsy Consortium on Complex Epilepsies* (including Yamakawa K).
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nat Genet. 55(9):1471-1482. (2023)
PMID: 37653029 doi:10.1038/s41588-023-01485-w
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative (including Yamakawa K); Helbig I, Leu C, Lal D.
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nat Commun. 14(1):4392.(2023)
PMID: 37474567 doi: 10.1038/s41467-023-39539-6.
Bundalian L, Su YY, Chen S, Velluva A, Kirstein AS, Garten A, Biskup S, Battke F, Lal D, Heyne HO, Platzer K, Lin CC, Lemke JR, Le Duc D*; Epi25 Collaborative (including Yamakawa K).
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population. Am J Hum Genet. 110(7):1110-1122. (2023)
PMID: 37369202 doi: 10.1016/j.ajhg.2023.06.004.
Yamagata T, Ogiwara I, Tatsukawa T, Suzuki T, Otsuka Y, Imaeda N, Mazaki E, Inoue I, Tokonami N, Hibi Y, Itohara S, Yamakawa K*.
Scn1a-GFP transgenic mouse revealed Nav1.1 expression in neocortical pyramidal1 tract projection neurons. eLife. 12:e87495. (2023)
PMID: 37219072 doi: 10.7554/eLife.87495.
Collins RL*, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U; Epi25 Consortium (including Yamakawa K); Estonian Biobank Research Team, Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H*, Talkowski ME*.
A cross-disorder dosage sensitivity map of the human genome. Cell. 185(16):3041-3055.e25. (2022)
PMID: 35917817 doi: 10.1016/j.cell.2022.06.036.
Campbell C, Leu C, Feng YA, Wolking S, Moreau C, Ellis C, Ganesan S, Martins H, Oliver K, Boothman I, Benson K, Molloy A, Brody L; Epi4K Collaborative; Genomics England Research Consortium, Michaud JL, Hamdan FF, Minassian BA, Lerche H, Scheffer IE, Sisodiya S, Girard S, Cosette P, Delanty N, Lal D, Cavalleri GL*, Epi25 Collaborative (including Yamakawa K).
The role of common genetic variation in presumed monogenic epilepsies. EBioMedicine. 81:104098. (2022)
PMID: 35679801 doi: 10.1016/j.ebiom.2022.104098.
Dias KR, Carlston MC, Blok ERL, Hayr DL, Nawaz U, Evans CA, Bayrak-Toydemir P, Htun S, Zhu Y, Ma A, Lynch AS, Moorwood C, Stals K, Ellard S, Bainbridge NM, Friedman J, Pappas GJ, Rabin R, Nowak BC, Douglas J, Wilson ET, Torti E, Kirk PE, Pinner RJ, Edwards M, Selvanathan A, Montanari F, Graziano C, Pippucci T, Dingmann B, Glass I, Mefford CH, Shimoji T, Suzuki T, Yamakawa K, Streff H, Schaaf PC, Slavotinek MA, Voineagu I, Carey CJ, Buckley FM, Schenck A, Harvey JR, Roscioli T*.
De Novo ZMYND8 Variants Result in an Autosomal Dominant Neurodevelopmental Disorder with Cardiac Malformations. Genet. Med. 24(9):1952-1966. (2022)
PMID: 35916866.doi: 10.1016/j.gim.2022.06.001.
Kushima I*, Nakatochi M, Aleksic B, Okada T, Kimura H, Kato H, Morikawa M, Inada T, Ishizuka K, Torii Y, Nakamura Y, Tanaka S, Imaeda M, Takahashi N, Yamamoto M, Iwamoto K, Nawa Y, Ogawa N, Iritani S, Hayashi Y, Lo T, Otgonbayar G, Furuta S, Iwata N, Ikeda M, Saito T, Ninomiya K, Okochi T, Hashimoto R, Yamamori H, Yasuda Y, Fujimoto M, Miura K, Itokawa M, Arai M, Miyashita M, Toriumi K, Ohi K, Shioiri T, Kitaichi K, Someya T, Watanabe Y, Egawa J, Takahashi T, Suzuki M, Sasaki T, Tochigi M, Nishimura F, Yamasue H, Kuwabara H, Wakuda T, Kato TA, Kanba S, Horikawa H, Usami M, Kodaira M, Watanabe K, Yoshikawa T, Toyota T, Yokoyama S, Munesue T, Kimura R, Funabiki Y, Kosaka H, Jung M, Kasai K, Ikegame T, Jinde S, Numata S, Kinoshita M, Kato T, Kakiuchi C, Yamakawa K, Suzuki T, Hashimoto N, Ishikawa S, Yamagata B, Nio S, Murai T, Son S, Kunii Y, Yabe H, Inagaki M, Goto Y, Okumura Y, Ito T, Arioka Y, Mori D, Ozaki N.
Cross-disorder analysis of genic and regulatory copy number variations in bipolar disorder, schizophrenia, and autism spectrum disorder. Biol Psychiat 92(5):362-374. (2022)
PMID: 35667888 doi: 10.1016/j.biopsych.2022.04.003.
Suzuki T, Tatsukawa T, Sudo G, Delandre C, Pai JY, Miyamoto H, Raveau M, Shimohata A, Ohmori I, Hamano S, Haginoya K, Uematsu M, Takahashi Y, Morimoto M, Fujimoto S, Osaka H, Oguni H, Osawa M, Ishii A, Hirose S, Kaneko S, Inoue Y, Moore WA, Yamakawa K*
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate Sci. Rep. 12:6505. (2022)
PMID: 35581205 doi: 10.1038/s41598-022-10715-w
Koko M, Krause R, Sander T, Bobbili DR, Nothnagel M, May P*, Lerche H*, Epi25 Collaborative (including Yamakawa K).
Distinct gene-set burden patterns underlie common generalized and focal epilepsies. EBioMedicine. 72:103588. (2021)
doi: 10.1016/j.ebiom.2021.103588 PMID: 34571366.
Hawkins AN, Jurado M, Thaxton TT, Duarte ES, Barse L, Tatsukawa T, Yamakawa K, Nishi T, Kondo S, Miyamoto M, Abrahams SB, During JM, Kearney AJ*.
Soticlestat, a novel cholesterol 24-hydroxylase inhibitor, reduces seizures and premature death in Dravet syndrome mice. Epilepsia. 62(11):2845-2857. (2021)
doi: 10.1111/epi.17062 PMID: 34510432
Nakajima K, Ishiwata M, Weitemier AZ, Shoji H, Monai H, Miyamoto H, Yamakawa K, Miyakawa T, McHugh TJ, Kato T*.
Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca2+ pump responsible for Darier's disease, causes behavioral abnormalities and a hyper-dopaminergic state. Hum Mol Genet. 30(18):2762-1772. (2021)
doi: 10.1093/hmg/ddab137. PMID: 34104969
Stevelink R, Luykx JJ, Lin BD, Leu C, Lal D, Smith AW, Schijven D, Carpay JA, Rademaker K, Rodrigues Baldez RA, Devinsky O, Braun KPJ, Jansen FE, Smit DJA, Koeleman BPC; International League Against Epilepsy Consortium on Complex Epilepsies; Epi25 Collaborative (including Yamakawa K).
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations. Epilepsia 62(7):1518-1527. (2021)
doi: 10.1111/epi.16922 PMID: 34002374
Epi25 Collaborative (including Yamakawa K).
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. Am J Hum Genet 108(6):965-982. (2021)
doi: 10.1016/j.ajhg.2021.04.009 PMID: 33932343
Suzuki T, Koike Y, Ashikawa K, Otomo N, Takahashi A, Aoi T, Kamatani N, Nakamura Y, Kubo M, Kamatani Y, Momozawa Y, Terao C*, Yamakawa K*.
Genome-wide association study of epilepsy in Japanese population identified an associated region at chromosome 12q24. Epilepsia, 62(6):1391-1400. (2021)
doi: 10.1111/epi.16911 PMID: 33913524
Shimizu R, Ishihara K*, Kawashita E, Sago H, Yamakawa K, Mizutani K, Akiba S.
Decrease in the T-box1 gene expression in embryonic brain and adult hippocampus of Down syndrome mouse models. Biochem Biophys Res Commun, 535:87-92. (2021)
doi: 10.1016/j.bbrc.2020.12.026
Suzuki T, Inoue I, Yamakawa K*.
Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain. Sci. Rep. 10, 22076.(2020)
PMID: 33328576 dio: 10.1038/s41598-020-79202-4
Kato H, Kushima I*, Mori D, Yoshimi A, Aleksic B, Nawa Y, Toyama M, Furuta S, Yu Y, Ishizuka K, Kimura H, Arioka Y, Tsujimura K, Morikawa M, Okada T, Inada T, Nakatochi M, Shinjo K, Kondo Y, Kaibuchi K, Funabiki Y, Kimura R, Suzuki T, Yamakawa K, Ikeda M, Iwata N, Takahashi T, Suzuki M, Okahisa Y, Takaki M, Egawa J, Someya T, Ozaki N.
Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder. Transl Psychiatry. 10(1):421. (2020)
PMID: 33279929. doi: 10.1038/s41398-020-01107-7.
Hayase Y*, Amano S, Hashizume K, Tominaga T, Miyamoto H, Kanno Y, Ueno-Inoue Y, Inoue T, Yamada M, Ogata S, Shabeesh B, Hayashi K, Miura Y, Tokudome K, Ohno Y, Nishijo T, Momiyama T, Yanagawa Y, Takizawa A, Mashimo T, Serikawa T, Sekine A, Nakagawa E, Takeshita E, Yoshikawa T, Waga C, Inoue K, Goto Y, Nabeshima Y, Ihara N, Yamakawa K, Taya S*, Hoshino M*.
Down Syndrome Cell Adhesion Molecule Like-1 (DSCAML1) links the GABA system and seizure susceptibility.
Acta Neuropathol Commun 8(1):206. (2020)
doi: 10.1186/s40478-020-01082-6.
Arimura N, Okada M, Taya S, Dewa K, Tsuzuki A, Uetake H, Miyashita S, Hashizume K, Shimaoka K, Egusa S, Nishioka T, Yanagawa Y, Yamakawa K, Inoue UY, Inoue T, Kaibuchi K, Hoshino M*.
DSCAM regulates delamination of neurons in the developing midbrain. Sci Adv 6(36):eaba1693. (2020)
doi: 10.1126/sciadv.aba1693
Arima-Yoshida F, Raveau M, Shimohata A, Amano K, Fukushima A, Watanave M, Kobayashi A, Hattori A, Usui M, Sago H, Mataga N, Miyakawa T, Yamakawa K*, Manabe T*.
Impairment of spatial memory accuracy improved by Cbr1 copy number resumption and GABAB receptor-dependent enhancement of synaptic inhibition in Down syndrome model mice. Sci Rep 10;14187.(2020)
PMID: 32843708 doi: 10.1038/s41598-020-71085-9
Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D*; Epi25 Collaborative (including Yamakawa K.).
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain awaa171.(2020)
PMID: 32568404 doi: 10.1093/brain/awaa171
Heyne OH, Baez-Nieto D, Iqbal S, Palmer D, BrunklausA, the Epi25 Collaborative (including Yamakawa K.), Johannesen MK, Lauxmann S, Lemke RJ, Møller SR, Pérez-Palma E, Scholl U, SyrbeS, Lerche H, May P, Lal D, Campbell JA, Pan, Hao-Ran Wang, Mark J. Daly*.
Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels. Sci Transl Med 12(556):eaay6848.(2020)
doi: 10.1101/671453
Yamagata T, Raveau M, Kobayashi K, Miyamoto H, Tatsukawa T, Ogiwara I, Itohara S, Hensch TK, Yamakawa K.*
CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice. Neurobiol Dis. May 20;104954. (2020)
PMID: 32445790 doi:10.1016/j.nbd.2020.104954
Suzuki T, Suzuki T, Raveau M, Miyake N, Sudo G, Tsurusaki Y, Watanabe T, Sugaya Y, Tatsukawa T, Mazaki E, Shimohata A, Kushima I, Aleksic B, Shiino T, Toyota T, Iwayama Y, Nakaoka K, Ohmori I, Sasaki A, Watanabe K, Hirose S, Kaneko S, Inoue Y, Yoshikawa T, Ozaki N, Kano M, Shimoji T, Matsumoto N*, Yamakawa K*.
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders. Ann Clin Transl Neurol. 7(7):1117-1131. (2020)
PMID: 32530565 doi: 10.1002/acn3.51093
Kogiso H, Raveau R, Yamakawa K, Saito D, Ikeuchi-Yamaoto Y, Okazaki T, Asano S, Inui T, Marunaka Y, Nakahari T*.
Airway ciliary beating affected by Pcp4 dose-dependent [Ca2+]i in Down syndrome mice. Int J Mol Sci 21, 1947. (2020)
doi: 10.3390/ijms21061947
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium (including Yamakawa K), Lal D*.
Polygenic burden in focal and generalized epilepsies. Brain Nov 1;142(11):3473-3481. (2019)
PMID: 31608925 doi: 10.1093/brain/awz292.
Ishihara K*, Shimizu R, Takata K, Kawashita E, Amano K, Shimohata A, Low D, Nabe T, Sago H, Alexander WS, Ginhoux F, Yamakawa K, Akiba S.
Perturbation of the immune cells and prenatal neurogenesis by the triplication of the Erg gene in mouse models of Down syndrome. Brain Pathol Jun 17. (2019)
doi: 10.1111/bpa.12758.
Epi25 Collaborative (Berkovic S*, Neale BM*, Yamakawa K, et al.).
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals. Am J Hum Genet 105:267-282. (2019)
Miyamoto H, Tatsukawa T, Shimohata A, Yamagata T, Suzuki T, Amano K, Mazaki E, Raveau M, Ogiwara I, Oba-Asaka A, Hensch TK, Itohara S, Sakimura K, Kobayashi K, Kobayashi K, Yamakawa K*.
Impaired Cortico-Striatal Excitatory Transmission Triggers Epilepsy. Nat Commun 10:1917. (2019)
doi: 10.1038/s41467-019-09954-9. PMID: 31015467
Tatsukawa T, Raveau M, Ogiwara I, Hattori S, Miyamoto H, Mazaki E, Itohara S, Miyakawa T, Montal M, Yamakawa K*.
Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity. Mol Autism 10:15. (2019)
doi:10.1186/s13229-019-0265-5.
Begemann A, Acuña M, Zweier M, Vincent M, Steindl K, Bachmann-Gagescu R, Hackenberg A, Abela Lucia, Plecko B, Kroell-Seger J, Baumer A, Yamakawa K, Inoue Y, Asadollahi R, Sticht H, Zeilhofer H, Rauch A*.
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Mol Med 25:6. (2019)
https://doi.org/10.1186/s10020-019-0073-6.
Ishihara K*, Kawashita E, Simizu R, Nagasawa K, Yasui H, Sago H, Yamakawa K, Akiba S.
Copper accumulation in the brain causes the elevation of oxidative stress and less anxious behavior in Ts1Cje mice, a model of Down syndrome. Free Radic Biol Med 134:248-259. (2019)
doi: 10.1016/j.freeradbiomed.2019.01.015. PMID: 30673603
Ritter-Makinson S, Ritter-Makinson A, Higashikubo B, Cho FS, Holden S, Bennett E, Chkaidze A, Oscar HJ, Rooda E, Cornet MC, Hoebeek FE, Yamakawa K, Cilio MR, Delord B, Paz JT*.
Augmented reticular thalamic bursting and seizures in Scn1a-Dravet syndrome. Cell Rep 26(1):54-64.e6. (2019)
PMID: 30605686.
Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Aklanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N*.
De novo truncating mutations in PHF21A cause intellectual disability and craniofacial anomalies. Eur J Hum Genet 27(3):378-383. (2019)
doi: 10.1038/s41431-018-0289-x. PMID: 30487643
Kushima I, Aleksic B, Nakatoch M, Shimamura T, Okada T, Uno Y, Morikawa M, Ishizuka K, Shiino T, Kimura H, Arioka Y, Yoshimi A, Takasaki Y, Yu Y, Nakamura Y, Yamamoto M, Iidaka T, Iritani S, Inada T, Ogawa N, Shishido E, Torii Y, Kawano N, Omura Y, Yoshikawa T, Uchiyama T, Yamamoto T, Ikeda M, Hashimoto R, Yamamori H, Yasuda Y, Someya T, Watanabe Y, Egawa J, Nunokawa A, Itokawa M, Arai M, Miyashita M, Kobori A, Suzuki M, Takahashi T, Usami M, Kodaira M, Watanabe K, Sasaki T, Kuwabara H, Tochigi M, Nishimura F, Yamasue H, Eriguchi Y, Benner S, Kojima M, Yassin W, Munesue T, Yokoyama S, Kimura R, Funabiki Y, Kosaka H, Ishitobi M, Ohmori T, Numata S, Yoshikawa T, Toyota T, Yamakawa K, Suzuki T, Inoue Y, Nakaoka K, Goto Y, Inagaki M, Hashimoto N, Kusumi I, Son S, Murai T, Ikegame T, Okada N, Kasai K, Kunimoto S, Mori D, Iwata N, Ozaki N*.
Comparative analyses of copy number variation in autism spectrum disorder and schizophrenia reveal etiological overlap and biological insights. Cell Rep 24(11):2838-2856. (2018)
doi: 10.1016/j.celrep.2018.08.022.
Haginoya K, Togashi N, Kaneta T, Hino-Fukuyo N, Ishitobi M, Kakisaka Y, Uematsu M, Inui T, Okubo Y, Sato R, Miyabayashi T, Arai A, Ogiwara I, Mazaki E, Yamakawa K, Iinuma K, Kure S.
[18F] fluorodeoxyglucose-positron emission tomography study of genetically T confirmed patients with Dravet syndrome. Epilepsy Res 147:9-14. (2018)
PMID: 30176532
Ogiwara I, Miyamoto H, Tatsukawa T, Yamagata T, Nakayama T, Atapour N, Miura E, Mazaki E, Ernst SJ, Cao D, Ohtani H, Itohara S, Yanagawa Y, Montal M, Yuzaki M, Inoue Y, Hensch T, Noebels J, Yamakawa K*.
Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice. Commun Biol 1, Article number 96. (2018)
doi: 10.1038/s42003-018-0099-2.
Middleton SJ*, Kneller EM, Chen S, Ogiwara I, Montal M, Yamakawa K*, McHugh TJ*.
Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene. Nat Neurosci 21(7):996-1003. (2018)
doi:10.1038/s41593-018-0163-8.
Bailey JN, de Nijis L, Bai D, Suzuki T, Miyamoto H, Tanaka M, Patterson C, Lin YC, Medina M, Alonso M, Seratossa J, Duron R, Nguyen V, Wight J, Martinez-Juarez I, Ochoa A, Jara-Prado A, Guilhoto L, Molina Y, Yacubian E, Lopez-Ruiz M, Inoue Y, Kaneko S, Hirose S, Osawa M, Oguni H, Fujimoto S, Grisar T, Stern J, Yamakawa K*, Laykaye B*, Delgado-Escueta A*.
Variant intestinal cell kinase in juvenile myoclonic epilepsy. New Eng J Med 378:1018-28. (2018)
DOI: 10.1056/NEJMoa1700175.
Raveau M, Polygalov D, Boehringer R, Amano K, Yamakawa K*, McHugh TJ*.
Alterations of in vivo CA1 network activity in Dp(16)1Yey Down
syndrome model mice. eLife 7:e31543. (2018)
DOI: 10.7554/eLife.31543.
Tatsukawa T, Ogiwara I, Mazaki E, Shimohata A, Yamakawa K*.
Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells. Neurobiol Dis 112:24-34. (2018)
doi: 10.1016/j.nbd.2018.01.009.
Raveau M, Shimohata A, Amano K, Miyamoto H, Yamakawa K*.
DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures. Neurobiol Dis 110:180-191. (2018)
doi: 10.1016/j.nbd.2017.12.003.
Miyamoto H, Shimohata A, Abe M, Abe T, Mazaki M, Amano K, Suzuki T, Tatsukawa T, Itohara S, Sakimura K, Yamakawa K*.
Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency. Hum Mol Genet Dec 15:26(24):4961-4974. (2017)
doi: 10.1093/hmg/ddx379.
Yamagata T, Ogiwara I, Mazaki E, Yanagawa Y, Yamakawa K*.
Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2. Biochem Biophyl Res Commun 491(4):1070-1076. (2017)
doi: 10.1016/j.bbrc.2017.08.013.
Shimohata A, Ishihara K, Hattori S, Miyamoto H, Morishita H, Ornthanalai G, Raveau M, Ebrahim AS, Amano K, Yamada K, Sago H, Akiba S, Mataga N, Murphy NP, Miyakawa T, Yamakawa K*.
Ts1Cje Down syndrome model mice exhibit environmental stimuli-triggered locomotor hyperactivity and sociability concurrent with increased flux through central dopamine and serotonin metabolism. Exp Neurol 293:1-12. (2017)
doi: 10.1016/j.expneurol.2017.03.009.
Raveau M, Nakahari T, Asada S, Ishihara K, Amano K, Shimohata A, Sago H, Yamakawa K*.
Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction. Hum Mol Genet 26(5):923-931. (2017)
doi: 10.1093/hmg/ddx007.
Nozari M, Suzuki T, Rosa MG, Yamakawa K, Atapour N*.
The impact of early environmental interventions on structural plasticity of the axon initial segment in neocortex. Dev Psychobiol 59(1):39-47. (2017)
Bailey JN, Patterson C, de Nijs L, Durón RM, Nguyen VH, Tanaka M, Medina MT, Jara-Prado A, Martínez-Juárez IE, Ochoa A, Molina Y, Suzuki T, Alonso ME, Wight JE, Lin YC, Guilhoto L, Targas Yacubian EM, Machado-Salas J, Daga A, Yamakawa K, Grisar TM, Lakaye B, Delgado-Escueta AV*.
EFHC1 variants in Juvenile Myoclonic Epilepsy: Reanalysis according to NHGRI and ACMG Guidelines for assigning disease causality. Genet Med 19(2):144-156. (2017)
doi: 10.1038/gim.2016.86.
Maeda H, Chiyonobu T, Yoshida M, Yamashita S, Zuiki M, Kidowaki S, Isoda K, Yamakawa K, Morimoto M, Nakahata T, Saito MK, Hosoi H*.
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. J Hum Genet 61(6):565-9. (2016)
doi: 10.1038/jhg.2016.5.
Cornford EM*, Hyman S, Cornford ME, Chytrova G, Rhee J, Suzuki T, Yamagata T, Yamakawa K Penichet ML, Pardridge WM.
Non-invasive gene targeting to the fetal brain after intravenous administration and transplacental transfer of plasmid DNA using PEGylated immunoliposomes. J Drug Target 2:1-10. (2015)
Miyazaki H, Oyama F, Inoue R, Aosaki T, Abe T, Kiyonari H, Kino Y, Kurosawa M, Shimizu J, Ogiwara I, Yamakawa K, Koshimizu Y, Fujiyama F, Kaneko T, Shimizu H, Nagatomo K, Yamada K, Shimogori T, Hattori N, Miura M, Nukina N*.
Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum. Nat Commun 5:5525. (2014)
doi: 10.1038/ncomms6525.
Ishihara K*, Kanai S, Sago H, Yamakawa K, Akiba S.
Comparative proteomic profiling reveals aberrant cell proliferation in the embryonic brain of Ts1Cje, a mouse model for Down syndrome. Neuroscience pii:S0306-4522(14): 00790-8. (2014)
doi: 10.1016/j.neuroscience.2014.09.039.
Tomioka-H N, Yasuda H, Miyamoto H, Hatayama M, Morimura N, Matsumoto Y, Suzuki T, Odagawa M, Odaka-S Y, Iwayama Y, Um JW, Ko J, Inoue Y, Kaneko S, Hirose S, Yamada K, Yoshikawa T, Yamakawa K, Aruga J*.
Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures. Nat Commun 5:4501. (2014)
doi:10.1038/ncomms5501.
Kouga T, Shimbo H, Iai M, Yamashita S, Hirose S, Yamakawa K, Osaka H*.
Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome. Brain Dev May 9. pii: S0387-7604(14): 00097-7. (2014)
doi: 10.1016/j.braindev.2014.04.003.
Takayama R, Fujiwara T, Shigematsu H, Imai K, Takahashi Y, Yamakawa K, Inoue Y*.
Long-term course of Dravet syndrome: Astudy from an epilepsy center in Japan. Epilepsia 55(4): 528-538. (2014)
doi: 10.1111/epi.12532.
Ogiwara I, Iwasato T, Miyamoto H, Iwata R, Yamagata T, Mazaki E, Yanagawa Y, Tamamaki N, Hensch TK, Itohara S, Yamakawa K*.
Nav1.1 haploinsufficiency in excitatory neurons ameliorates sseizure-associated sudden death in a mouse model of Dravet syndrome. Hum Mol Genet 22(23): 4784-4804. (2013)
doi: 10.1093/hmg/ddt331.
Ito S, Ogiwara I, Yamada K, Miyamoto H, Hensch T, Osawa M, Yamakawa K*.
Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome exhibits lowered sociability and learning impairment. Neurobiol Dis 49: 29-40 (2013) (Aug. 16, 2012 available online)
doi: 10.1016/j.nbd.2012.08.003.
Yamakawa K*, Suzuki T.
Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindele, and midbody - nonspecific? Epilepsy Behav 28, pp.S61-S62. (2013)
Doi: 10.1016/j.yebeh.2012.06.032.
Auerbach DS, Jones J, Clawson BC, Offord J, Lenk GM, Ogiwara I, Yamakawa K, Meisler MH, Parent JM, Isom LL*.
Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome. PLos One 8(10): e77843-1-e77843-15. (2013)
doi: 10.1371/journal.pone. 0077843.
Kasteleijn-Nolst Trenité DG, Schmitz B, Janz D, Delgado-Escueta AV, Thomas P, Hirsch E, Lerche H, Camfield C, Baykan B, Feucht M, Martínez-Juárez IE, Duron RM, Medina MT, Rubboli G, Jerney J, Hermann B, Yacubian E, Koutroumanidis M, Stephani U, Salas-Puig J, Reed RC, Woermann F, Wandschneider B, Bureau M, Gambardella A, Koepp MJ, Gelisse P, Gurses C, Crespel A, Nguyen-Michel VH, Ferlazzo E, Grisar T, Helbig I, Koeleman BP, Striano P, Trimble M, Buono R, Cossette P, Represa A, Dravet C, Serafini A, Berglund IS, Sisodiya SM, Yamakawa K, Genton P*.
Consensus on diagnosis and management of JME: From founder’s observations to current trends. Epilepsy Behav 28, Supple 1: S87-90. (2013)
doi: 10.1016/j.yebeh. 2012.11.051.
Ogiwara I, Nakayama T, Yamagata T, Ohtani H, Mazaki E, Tsuchiya S, Inoue Y, Yamakawa K*.br />
A homozygous mutation of voltage-gated sodium channel bI gene SCN1B in a patient with Dravet Syndrome. Epilepsia 53(12): e200-3. (2012)
doi: 10.1111/epi.12040.
Machado-Salas J, Avila-Costa MR, Guevara P, Guevara J, Durón RM, Bai D, Tanaka M, Yamakawa K, Delgado-Escueta AV*.
Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice. Exp Neurol 236(1):131-40. (2012)
Narita K, Kozuka-Hata H, Nonami Y, Ao-Kondo H, Suzuki T, Nakamura H, Yamakawa K, Oyama M, Inoue T, Takeda S*.
Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals. Biology Open 1(8): 815-25. (2012)
Doi: 10.1242/bio.20121081.
Cao D, Ohtani H, Ogiwara I, Ohtani S, Takahashi Y, Yamakawa K, Inoue Y*.
Efficacy of stiripentol in hyperthermia-induced seizures in a mouse model of Dravet syndrome. Epilepsia 53(7): 1140-5.
Doi: 10.1111/j.1528-1167.2012.03497.x. (2012)
Sugiura Y, Ogiwara I, Hoshi A, Yamakawa K, Ugawa Y*.
Different degrees of loss of function between GEFS+ and SMEI NAv1.1 missense mutants at the same residue induced by rescuable folding defects. Epilepsia 53(6) e111-e114. (2012)
Cantrup R, Dixit R, Palmesino E, Bonfield S, Shaker T, Tachibana N, Zinyk D, Dalesman S, Yamakawa K, Stell W.K., Wong R.O., Reese B.E., Kania A, Sauvé Y, Schuurmans C*.
Cell-type specific roles for PTEN in establishing a functional retinal architecture. PLos ONE 7(3):e32795-1-e32795-18. (2012)
Katano M, Numata T, Augan K, Hara Y, Kiyonaka S, Yamamoto S, Miki T, Sawamura S, Suzuki T, Yamakawa K, Mori Y*.
The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death. Cell Calcium 51: 179-185. (2012)
Puri R, Suzuki T, Yamakawa K, Ganesh S*.
Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease. Hum Mol Genet 21(1): 175-184. (2012)
Tsuji M, Mazaki E, Ogiwara I, Wada T, Iai M, Okumura A, Yamashita S, Yamakawa K, Osaka H*.
Acute Encephalopathy in a Patient with Dravet Syndrome. Neuropediatrics 42: 78-81. (2011)
Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, Yamakawa K*.
Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. Hum Mutat 31 :820-829. (2010)
Ishihara K, Amano K,Takaki E, Shimohata A, Sago H, Epstein CJ, Yamakawa K*.
Enlarged brain ventricles and impaired neurogenesis in the Ts1Cje and Ts2Cje mouse models of Down syndrome. Cereb Cortex 20(5): 1131-1143. (2010)
Takayanagi M, Haginoya K, Umehara N, Kitamura T, Numata Y, Wakusawa K, Hino-Fukuyo N, Mazaki E, Yamakawa K*, Ohura T, Ohtake M*.
Acute encephalopathy with a truncation mutation in the SCN1A gene: A case report. Epilepsia 51(9): 1886-1888. (2010)
Arata S, Amano K, Yamakawa K, Arata A*.
Central respiratory failure in a mouse model depends on the genetic background of the host. Adv Expl Med Biol 669: 21-4. (2010)
Amano K, Fujii M, Arata S, Ogawa M, Yamakawa K, Arata A*.
Loss of pre-inspiratory neuron synchroneity in mice with DSCAM deficiency. Adv Expl Med Biol 669:15-9. (2010)
Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K*.
De novo mutations of voltage-gated sodium channel alpha II gene SCN2A in intractable epilepsies. Neurology 73(13): 1046-1053. (2009)
Ishihara K, Amano K, Takaki E, Ebrahim ES, Shimohata A, Shibazaki N, Inoue I, Takaki M, Ueda Y, Sago H, Epstein CJ, Yamakawa K*.
Increased lipid peroxidation in Down syndrome mouse models. J Neurochem 110: 1965-1976. (2009)
Amano K, Fujii M, Arata S, Tojima T, Ogawa M, Shimohata A, Furuichi T, Itohara S, Kamiguchi H, Korenberg J.R, Arata A, Yamakawa K*.
DSCAM deficiency causes loss of pre-inspiratoru neuron synchroneity and perinatal death. J Neurosci 29:2984-2996. (2009)
Puri R, Suzuki T, Yamakawa K, Ganesh S*. (2009)
Hyperphosphorylation and aggregation of tau in Laforin-deficient mice, an animal model for Lafora disease. J Biol Chem 284 (34): 22657-22663.
Fukuyo N, Haginoya K, Togashi N, Uematsu M, Kitamura T, Kakisaka Y, Ishitobi M, Wakusawa K, Iinuma K, Oguni H, Yanakawa K, Tsuchiya S*.
Ictal Vomiting as an Initial Symptom of Severe Myoclonic Epilepsy in Infancy: A Case Report. J Child Neurol 24:228-230. (2009)
Medina M.T, Suzuki T, Alonso M.E, Duron R.M, Martinez-Juarez I.E, Bailey J.N, Bai D, Inoue Y, Yoshimura I, Kaneko S, Montoya M.C, Ochoa A, Jara Prado A, Tanaka M, Machado-Salas J, Fujimoto S, Ito M, Hamano S, Sugita K, Ueda Y,Osawa M, Oguni H, Rubio-Donnadieu F, Yamakawa K, Delgado-Escueta AV*.
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology 70: 2137-2144. (2008)
Bai D, Bailey JN, Durón RM, Alonso ME, Medina MT, Martínez-Juárez IE, Suzuki T, Machado-Salas J, Ramos-Ramírez R, Tanaka M, Ortega RH, López-Ruiz M, Rasmussen A, Ochoa A, Jara-Prado A, Yamakawa K, Delgado-Escueta AV*.
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy. Epilepsia 50(5): 1184-1190. (2008)
Suzuki T, Inoue I, Yamagata T, Morita N, Furuichi T, Yamakawa K*.
Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia. Biochem Biophyl Res Commun 367:226-233. (2008)
Amano K, Yamada K, Iwayama Y, Detera-Wadleigh SD, Hattori E, Toyota T, Tokunaga K, Yoshikawa T, Yamakawa K*.
Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder. Psychiatr Genet 18:1-10. (2008)
Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch TK, Yamakawa K*.
Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: a Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation. J Neurosci 27: 5903-5914. (2007)
Singh B, Monteil A, Bidaud I, Sugimoto Y, Suzuki T, Hamano SI, Oguni H, Osawa M, Alonso ME, Delgado-Escueta AV, Inoue Y, Yasui-Furukori N, Kaneko S, Lory P, Yamakawa K*.
Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Hum Mutat 28(5):524-525. (2007)
Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, Yamada M, Kurosawa K, Iwamoto H, Yasui-Furukori N, Kaneko S, Fujiwara T, Inoue Y, Yamakawa K*.
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. Epilepsy Res 75: 46-51. (2007)
Mittal S, Dubey D, Yamakawa K, Ganesh S*.
Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment. Hum Mol Genet 16:753-762. (2007)
Shukkur EA, Shimohata A, Akagi T, Yu W, Yamaguchi M, Murayama M, Chui D, Takeuchi T, Amano K, Harve Subramhanya K, Hashikawa T, Sago H, Epstein CJ, Takashima A, Yamakawa K*.
Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. Hum Mol Genet 15: 2752-2762. (2006)
Singh B, Ogiwara I, Kaneda M, Tokonami N, Mazaki E, Baba K, Matsuda K, Inoue Y, Yamakawa K*.
A Kv4.2 truncation mutation In a patient with temporal lobe epilepsy. Neurobiol Dis 24:245-253. (2006)
Suzuki T, Delgado-Escueta AV, Alonso ME, Morita R, Okamura N, Sugimoto Y, Bai D, Medina MT, Bailey JN, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Ochoa A, Jara-Prado A, Inazawa J, Yamakawa K*.
Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy. Neurosci Lett 405: 126-131.(2006)
Morimoto M, Mazaki E, Nishimura A, Chiyonobu T, Sawai Y, Murakami A, Nakamura K, Inoue I, Ogiwara I, Sugimoto T, Yamakawa K*.
SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy. Epilepsia 47:1732-1736. (2006)
Singh S, Sethi I, Francheschetti S, Riggio C, Avanzini G, Yamakawa K, Delgado-Escueta AV, Ganesh S*.
Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora’s progressive myoclonus epilepsy. J Med Genet 43: e48. (2006)
doi:10.1136/jmg.2005.039479.
Rhodes TH, Vanoye CG, Ohmori I, Ogiwara I, Yamakawa K, George AL Jr*.
Sodium Channel Dysfunction in Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures. J Physiol 569:433-445. (2005)
Ganesh S, Tsurutani N, Amano K, Mittal S, Uchikawa C, Delgado-Escueta AV, Yamakawa K*.
Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins. Neurosci Lett 387:62-67. (2005)
Singh S, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K*, Ganesh S* (2005)
Mutations in the NHLRC1 gene are the common cause for Lafora disease in Japanese population. J Hum Genet 50:347-352.
Kimura K, Sugawara T, Mazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K*, Segawa M*.
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. Brain Dev 27:424-430. (2005)
Nagao Y, Mazaki E, Okamura N, Takagi M, Igarashi T, Yamakawa K*.
A family of generalized epilepsy with febrile seizures plus type 2 - a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures. Epilepsy Res 63:151-156. (2005)
Suzuki T, Delgado-Escueta AV*, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K*.
Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 36: 842-849. (2004)
Amano K, Sago H, Uchikawa C, Suzuki T, Kotliarova SE, Nukina N, Epstein CJ, Yamakawa K*.
Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome. Hum Mol Genet 13:1333-1340. (2004)
Ito M*, Shirasaka Y, Hirose S, Sugawara T, Yamakawa K (2004)
Seizure phenotypes of a family with missense mutations in SCN2A. Pediatr Neurol 31:150-152. (2004)
Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K*.
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci 24:2690-2698. (2004)
Ganesh S, Tsurutani N, Suzuki T, Hoshii Y, Ishihara T, Delgado-Escueta AV, Yamakawa K*.
The carbohydrate binding domain of Lafora disease protein targets Lafora polyglucosan bodies. Biochem Biophyl Res Commun 313:1101-1109. (2004)
Seto-Ohshima A*, Kitajima S, Ito M, Inoue M, Murashima YL, Yamakawa K, Itohara S.
Stimulus-induced behavior in F1 hybrids of seizure-sensitive and seizure-resistant gerbils. Zool Sci 20:1439-1445. (2003)
Ganesh S, Tsurutani N, Suzuki T, Ueda K. Agarwala KL, Osada H, Delgado-Escueta AV, Yamakawa K*.
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. Hum Mol Genet 12: 2359-2368. (2003)
Sugawara T, Tsurubuchi Y, Fujiwara T, Mazaki-Miyazaki E, Nagata K, Montal M, Inoue Y, Yamakawa K*.
Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res 54:201-207. (2003)
Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watamabe M, Hara K, Morikawa T, Yagi K, Yamakawa K*, Inoue Y*.
Mutations of sodium channel alpha type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126:531-546. (2003)
Saito-Ohara F, Fukuda Y, Ito M, Agarwala KL, Hayashi M, Matsuo M, Imoto I, Yamakawa K, Nakamura Y, Inazawa J*.
The Xp22 Inversion Breakpoint Interrupted a Novel Ras-Like GTPase Gene in a Patient with Duchenne Muscular Dystrophy and Profound Mental Retardation. Am J Hum Genet 71:637-645. (2002)
Bai D, Alonso ME, Medina MT, Bailey JN, Morita R, Cordova S, Rasmussen A, Ramos-Peek J, Ochoa A, Jara A, Donnadieu FR, Cadena G, Yamakawa K, Delgado-Escueta AV*.
Juvenile Myoclonic Epilepsy: Linkage to chromosome 6p12 in Mexico families. Am J Med Genet 113:268-274. (2002)
Ganesh S, Delgado-Escueta AV, Sakamoto T, Avila MR, Machado-Salas J, Hoshii Y, Akagi T, Gomi H, Suzuki T, Amano K, Agarwala KL, Hasegawa Y, Bai D-S, Ishihara T, Hashikawa T, Itohara S, Cornford EM, Niki H, Yamakawa K*.
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration , ataxia, myoclonus epilepsy and impaired behavioral response in mice. Hum Mol Genet 11:1251-1262. (2002a)
Ganesh S, Delgado-Escueta AV, Suzuki T, Francheschetti S, Riggio C, Avanzini G, Rabinowicz A, Bohlega S, Bailey J, Alonso ME, Rasmussen A, Thomson AE, Ochoa A, Prado AJ, Medina MT, Yamakawa K*.
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: Exon 1 mutations associate with an early onset cognitive deficit subphenotype. Hum Mol Genet 11:1263-1271. (2002b)
Hattori M, Kunugi H, Akahane A, Tanaka H, Ishida S, Hirose T, Morita R, Yamakawa K, Nanko S*.
Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia. Am J Med Genet 114:304-309. (2002)
Suzuki T, Morita R, Sugimoto Y, Sugawara T, Bai D-S, Alonso ME, Medina MT, Bailey JN, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Ochoa A, Jara-Prado A, Inazawa J, Delgado-Escueta AV, Yamakawa K*.
Identification and mutational analysis of candidate genes for Juvenile Myoclonic Epilepsy on 6p11-p12: LRRC1,GCLC, KIAA0057 and CLIC5. Epilepsy Res 50:265-275. (2002)
Ganesh S, Suzuki T, Yamakawa K*.
Alternative splicing modulates subcellular localization of laforin. Biochem Biophyl Res Commun 291:1134-1137. (2002)
Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K*.
Frequent Mutations of SCN1A in Severe Myoclonic Epilepsy in Infancy. Neurology 58:1122-1124. (2002)
Ito M, Nagafuji H, Okazawa K, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, Hirose S, Fukuma G, Mitsudome A, Wada K, Kaneko S*.
Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel a1 subunit gene, SCN1A. Epilepsy Res 48:15-23. (2002)
Suzuki T, Ganesh S, Agarwala KL, Morita R, Sugimoto Y, Inazawa J, Delgado-Escueta AV, Yamakawa K*.
A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain specific lysosomal membrane protein. Biochem Biophyl Res Commun 288:626-636. (2001)
Agarwala KL, Ganesh S, Suzuki T, Akagi T, Kaneko K, Amano K, Tsutsumi Y, Yamaguchi K, Hashikawa T, Yamakawa K*.
Dscam is associated with Axonal and Dendritic Features of Neuronal Cells. J Neurosci Res 66:337-346. (2001)
Agarwala KL, Ganesh S, Tsutsumi U, Suzuki T, Amano K, Yamakawa K*.
Cloning and Functional Characterization of DSCAML1, a Novel DSCAM-Like Cell Adhesion Molecule that Mediates Homophilic Intercellular Adhesion. Biochem Biophyl Res Commun 285:760-772. (2001)
Ganesh S, Shoda K, Amano K, Uchiyama A, Kumada S, Moriyama N, Hirose S, Yamakawa K*.
Mutation screening for Japanese Lafora's disease patients: Identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene. Mol Cell Probes 15:281-289. (2001)
Sugimoto Y, Morita R, Amano K, Shah PU, Castroviejo IP, Khan S, Delgado-Escueta AV, Yamakawa K*.
T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients. Epilepsy Res 46: 139-144. (2001)
Ganesh S, Agarwala KL, Amano K, Suzuki T, Delgado-Escueta AV, Yamakawa K*.
Regional and developmental expression of Epm2a gene and its evolutionary conservation. Biochem Biophyl Res Commun 283: 1046-1053. (2001)
Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, Wada K, Kaneko S, Hirose S, Yamakawa K* (2001)
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 57: 703-705.
Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, Nagafuji H, Noda M, Imoto K, Wada K, Mitsudome A, Kaneko S, Montal M, Nagata K, Hirose S, Yamakawa K*.
A missense mutation of the Na+ channel aII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci USA 98: 6384-6389. (2001)
Amano K, Nomura Y, Segawa M, Yamakawa K*.
R133C and R168X Mutations in Japanese Rett Syndrome Patients: A Caution for Misdiagnosis. Brain Dev 23:152-156. (2001)
Agarwala KL, Ganesh S, Amano K, Suzuki T, Yamakawa K*.
DSCAM, a highly conserved gene in mammals, expressed in differentiating mouse brain. Biochem Biophyl Res Commun 281: 697-705. (2001)
Yamamoto T, Ninomiya H, Matsumoto M, Ohta Y, Nanba E, Tsutsumi Y, Yamakawa K, Millat G, Vanier MT, Pentchev PG, Ohno K*.
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts. J Med Genet 37: 707-711. (2000)
Ganesh S, Agarwala K, Ueda K, Akagi T, Shoda K, Usui T, Hashikawa T, Osada H, Delgado-Escueta AV, Yamakawa K*.
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes. Hum Mol Genet 9: 2251-2261. (2000)
Sugimoto Y, Morita R, Amano K, Fong C-YG, Shah PU, Castroviejo IP, Khan S, Delgado-Escueta AV, Yamakawa K*.
Childhood Absence Epilepsy in 8q24: Refinement of Candidate Region and Construction of Physical Map. Genomics 68:264-272. (2000)
Agarwala KL, Nakamura S, Tsutsumi Y, Yamakawa K*.
Down Syndrome Cell Adhesion Molecule DSCAM Mediates Homophilic Intercellular Adhesion. Brain Res: Mol Brain Res 79:118-126. (2000)
Amano K, Nomura Y, Segawa M, Yamakawa K*.
Mutational analysis of MECP2 gene in Japanese Patients with Rett Syndrome. J Hum Genet 45:231-236. (2000)
Ganash S, Amano K, Yamakawa K*.
Assignment of the gene GRM1 coding for metabotropic glutamate receptor 1 to human chromosome band 6q24 by in situ hybridization. Cytogenet Cell Genet 88:314-315. (2000)
Morita R, Miyazaki E, Shah PU, Castroviejo IP, Delgado-Escueta AV, Yamakawa K*.
Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. Epilepsy Res 37:151-158. (1999)
Ganesh S, Amano K, Delgado-Escueta AV, Yamakawa K*.
Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A. Biochem Biophyl Res Commun 257:24-28. (1999)
Endo S, Suzuki M, Sumi M, Narin AC, Morita R, Yamakawa K, Greengard P, Ito M*.
Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells. Proc Natl Acad Sci USA 96:2467-2472. (1999)
Morita R, Miyazaki E, Fong CG, Chen X-N, Korenberg JR, Delgado-Escueta AV, Yamakawa K*.
JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. Biochem Biophyl Res Commun 248:307-314. (1998)
Yamakawa K, Huo Y-K, Haendel MA, Hubert R, Chen XN, Lyons GE, Korenberg JR*.
DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system. Hum Mol Genet 7:227-237. (1998)
Vielmetter J; Chen XN; Miskevich F; Lane RP; Yamakawa K; Korenberg JR; Dreyer WJ*.
Molecular characterization of human neogenin, a DCC-related protein, and the mapping of its gene (NEO1) to chromosomal position 15q22.3-q23. Genomics 41: 414-421. (1997)
Lane R, Chen XN, Yamakawa K, Vielmetter J, Korenberg JR, Dreyer WJ*.
Characterization of a highly conserved human homolog to the chicken neural cell surface protein Bravo/Nr-CAM that maps to chromosome band 7q31. Genomics 35:456-465. (1996)
Yamakawa K, Gao DQ, Korenberg JR*.
A periodic tryptophan protein 2 gene homoloque (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3. Cytogenet Cell Genet 74:140-145. (1996)
James LA, Ogilvie DJ, Yamakawa K, Nakamura Y, Stirling CJ, Anand R*.
Walking, cloning, and mapping with YACs in 3q27: Localization of five ESTs including three members of the cystatin gene family and identification of CpG islands. Genomics 32:425-430. (1996)
Yamakawa K. Mitchell S. Hubert R. Chen X-N. Colbern S. Huo Y-K. Gadomski C. Kim U-J. Korenberg JR*.
Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum Mol Genet 4:709-716. (1995)
Sakamoto M, Pinkel D, Mascio L, Sudar D, Peters D, Kuo WL, Yamakawa K, Nakamura Y, Drabkin H, Jericevic Z, Smith L, Gray JW.*
Semiautomated DNA probe mapping using digital imaging microscopy: II. System performance. Cytometry 19(1):60-69. (1995)
Ariyama T, Kimura T, Yamakawa K, Nakamura Y, Abe T, Inazawa J*.
Precise ordering of 26 cosmid markers on chromosome region 3p23-->p21.3 by two-color FISH on human prophase chromosomes and stretched DNAs. Cytogenet Cell Genet 70(1-2):129-133. (1995)
Hosoe S, Shigedo Y, Ueno K, Tachibana I, Osaki T, Tanio Y, Kawase I, Yamakawa K, Nakamura Y, Kishimoto T*.
Detailed deletion mapping of the short arm of chromosome 3 in small cell and non-small cell carcinoma of the lung. Lung Cancer 10:297-305. (1994)
Klauk SM, Yamakawa K, Seizinger BR*.
Dinucleotide repeat polymorphism at the D3s666 locus. Hum Mol Genet 3:840. (1994)
Hibi K, Yamakawa K, Ueda R, Horio Y, Murata Y, Tamari M, Uchida K, Takahashi T, Nakamura Y, Takahashi T*.
Abberant upregulation of a novel integrin alpha subunit gene at 3p21.3 in small cell lung cancer. Oncogene 9:611-619. (1994)
Murata Y, Tamari M, Takahashi T, Horio Y, Hibi K, Yokoyama S, Inazawa J, Yamakawa K, Ogawa A, Takahashi T, Nakamura Y*.
Characterization of 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line. Hum Mol Genet 3:1341-1344. (1994)
Yamakawa K, Takahashi T, Horio Y, Murata Y, Takahashi E, Hibi K, Yokoyama S, Ueda R, Takahashi T, Nakamura Y*.
Frequent homozygous deletions in lung cancer cell lines detected by a DNA marker located at 3p21.3-p22. Oncogene 8:327-330. (1994)
Horio Y, Takahashi T, Kuroishi T, Hibi K, Suyama M, Niimi T, Shimokata K, Yamakawa K, Nakamura Y, Ueda R, Takahashi T*.
Prognostic significance of p53 mutations and 3p deletions in primary resected non-small cell lung cancer. Cancer Res 53:1-4. (1993)
Yamakawa K, Takahashi E, Murata M, Okui K, Yokoyama S, Nakamura Y*.
Detailed mapping around the breakpoint of (3;8) translocation in familial renal cell carcinoma and FRA3B. Genomics 14:412-416. (1992)
Tsukamoto K, Tohma T, Ohta T, Yamakawa K, Fukushima Y, Nakamura Y, Niikawa N*.
Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I. Hum Mol Genet 1:315-317. (1992)
Jones MH, Yamakawa K, Nakamura Y*.
Isolation and characterization of 19 dinucleotide repeat polymorphisms on chromosome 3p. Hum Mol Genet 1:131-133. (1992)
Takahashi E, Yamakawa K, Nakamura Y, Hori T *.
A high-resolution cytogenetic map of human chromosome 3: Localization of 291 new cosmid markers by direct R-banding fluorescence in-situ hybridization. Genomics 13:1047-1055. (1992)
Yokoyama S, Yamakawa K, Tsuchiya E, Murata M, Sakiyama S, Nakamura Y*.
Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma and adenocarcinoma of the lung. Cancer Res 52:873-877. (1992)
Hibi K, Takahashi T, Yamakawa K, Ueda R, Sekido Y, Ariyoshi Y, Suyama M, Takagi H, Nakamura Y, Takahashi T*.
Three distinct regions involved in 3p deletion in human lung cancer. Oncogene 7:445-449. (1992)
Morita R, Saito S, Ishikawa J, Ogawa O, Yoshida O, Yamakawa K and Nakamura Y*.
Common regions of deletion on chromosome 5q, 6q, 10q in renal cell carcinoma. Cancer Res 51:5817-5820. (1991)
Yamakawa K, Morita R, Takahashi E, Hori T, Lathrop M, Nakamura Y.*
A genetic linkage map of 41 restriction fragment length polymorphism markers for human chromosome 3. Genomics 11:565-572. (1991)
Yamakawa K, Morita R, Takahashi E, Hori H, Ishikawa J, Nakamura Y*.
A detailed deletion mapping of the short arm of chromosome 3 in sporadic renal cell carcinoma. Cancer Res 51:4707-4711. (1991)
Yamakawa K, Takahashi E, Saito H, Sato T, Oshimura M, Hori T, Nakamura Y*.
Isolation and mapping of 75 new DNA markers on human chromosome 3. Genomics 9:536-543. (1991)
Sato T, Tanigami A, Yamakawa K, Akiyama F, Kasumi F, Sakamoto G, Nakamura Y*.
Allelotype of breast cancer: Cumulative allele losses promote tumor progression in primary breast cancer. Cancer Res 50:7184-7189. (1990)
Yamakawa K, Nakagomi O*.
Improved detection of rota virus RNA in dot-blot hybridization assay by chromatographic extraction and acid denaturation of double-stranded RNA. Mol Cell Probes 4:415-418. (1990)
Yamakawa K, Oyamada H, Nakagomi O*.
Identification of rotaviruses by dot-blot hybridization using an alkaline phosphatase-conjugated synthetic oligonucleotide probe. Mol Cell Probes 3:397-401. (1989)
