SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy

Purpose: To investigate the genetic background of familial severe myoclonic epilepsy in infancy (SMEI) cases. Methods: We performed mutation analyses of the sodium‐channel gene SCN1A in two Japanese brothers with clinical features of SMEI and their parents, who had no history of febrile and epilepti...

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Veröffentlicht in:	Epilepsia (Copenhagen) 2006-10, Vol.47 (10), p.1732-1736
Hauptverfasser:	Morimoto, Masafumi, Mazaki, Emi, Nishimura, Akira, Chiyonobu, Tomohiro, Sawai, Yasuko, Murakami, Aki, Nakamura, Keiko, Inoue, Ikuyo, Ogiwara, Ikuo, Sugimoto, Tohru, Yamakawa, Kazuhiro
Format:	Artikel
Sprache:	eng
Schlagworte:	Anticonvulsants. Antiepileptics. Antiparkinson agents Biological and medical sciences Child, Preschool Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis Epilepsies, Myoclonic - diagnosis Epilepsies, Myoclonic - epidemiology Epilepsies, Myoclonic - genetics Epithelial Sodium Channels - genetics Family Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Japan - epidemiology Male Medical sciences Mosaicism Mosaicism - statistics & numerical data Mutation - genetics Nervous system (semeiology, syndromes) Neurology Neuropharmacology Parents Pharmacology. Drug treatments SCN1A Severe myoclonic epilepsy in infancy Siblings
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