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Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
Biochemical and Biophysical Research Communications, 2002To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel alpha1-subunit (SCN1A) gene, beta1-subunit (SCN1B) gene, and gamma-aminobutyric acid(A) receptor gamma2-subunit (GABRG2) gene in DNAs from peripheral blood cells of 29 patients with severe myoclonic epilepsy in infancy (SME ...
Iori, Ohmori +4 more
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Mesial Temporal Sclerosis in Children With SCN1A Mutation
Journal of Child Neurology, 2013Zsuzsanna, Siegler, Andras, Fogarasi
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Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy
Epilepsia, 2006Davide Mei, Renzo Guerrini, Carla Marini
exaly
Two mild cases of Dravet syndrome with truncating mutation of SCN1A
Brain and Development, 2017Shinichi Hirose, Atsushi Ishii
exaly
Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A
Molecular Neurobiology, 2014Wei-Ping Liao, Y-J Chen
exaly
Parental SCN1A mutation mosaicism in familial Dravet syndrome
Clinical Genetics, 2009Dag Undlien
exaly
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome
Journal of Human Genetics, 2010Yuwu Jiang, Jiong Qin, Zhixian Yang
exaly
SCN1A Mutation Associated With Intractable Myoclonic Epilepsy and Migraine Headache
Journal of Child Neurology, 2013Patrick Frosk +2 more
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Rasmussen encephalitis associated with SCN1A mutation
Epilepsia, 2008Yoshihiro Maegaki +2 more
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SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy
Epilepsia, 2006Kazuhiro Yamakawa +2 more
exaly