Affiliation: Fukuoka University
Hirose S. Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy. Prog Brain Res. 2014;213:55-85 pubmed publisher
Tanaka Y, Higurashi N, Shirasu N, Yasunaga S, Moreira K, Okano H, et al
. Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene. Stem Cell Res. 2018;31:11-15 pubmed publisher
..The transgene-free FUi002-A showed pluripotency, three germ layer differentiation capacity in vitro, and a normal karyotype. The resulting hiPSCs were heterozygous for the mutation in the SCN1A gene. ..
Hirose S, Mitsudome A, Okada M, Kaneko S. Genetics of idiopathic epilepsies. Epilepsia. 2005;46 Suppl 1:38-43 pubmed
..These findings suggest the involvement of brain channelopathies in the pathogenesis of certain types of idiopathic epilepsy. ..
Shi X, Yang X, Tomonoh Y, Hu L, Ju J, Hirose S, et al
. Development of a mouse model of infantile spasms induced by N-methyl-D-aspartate. Epilepsy Res. 2015;118:29-33 pubmed publisher
..05). The NMDA mouse model has the following characteristics: age dependency, spasm-like seizures, cognitive impairment and response to ACTH, which fulfills the criteria of an IS model. ..
Ishii A, Kanaumi T, Sohda M, Misumi Y, Zhang B, Kakinuma N, et al
. Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy. Epilepsy Res. 2014;108:420-32 pubmed publisher
..g., GEFS+ and Dravet syndrome (which share similar abnormalities in causative genes) are likely due to impaired axonal transport associated with the dominant-negative effects of GABRG2. ..
Shiba Y, Mori F, Yamada J, Migita K, Nikaido Y, Wakabayashi K, et al
. Spontaneous epileptic seizures in transgenic rats harboring a human ADNFLE missense mutation in the Î²2-subunit of the nicotinic acetylcholine receptor. Neurosci Res. 2015;100:46-54 pubmed publisher
..Thus, the V286L-TG rat model could be a valuable tool for developing novel mechanism-driven treatment strategies for epilepsy and provide a better understanding of ADNFLE. ..
Tanaka Y, Sone T, Higurashi N, Sakuma T, Suzuki S, Ishikawa M, et al
. Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene. Stem Cell Res. 2018;28:100-104 pubmed publisher
..This artificial control iPSC line will be a powerful tool for research into the pathology of DS. ..
Hirose S, Mitsudome A. X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. Brain Dev. 2003;25:161-5 pubmed
..These findings provide solid evidence for the relationship between MR and epilepsy at a molecular level, opening a new avenue for understanding the pathogeneses of MR associated with epilepsy. ..
Higurashi N, Takahashi Y, Kashimada A, Sugawara Y, Sakuma H, Tomonoh Y, et al
. Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy. Seizure. 2015;27:1-5 pubmed publisher