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SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy
Author(s) -
Morimoto Masafumi,
Mazaki Emi,
Nishimura Akira,
Chiyonobu Tomohiro,
Sawai Yasuko,
Murakami Aki,
Nakamura Keiko,
Inoue Ikuyo,
Ogiwara Ikuo,
Sugimoto Tohru,
Yamakawa Kazuhiro
Publication year - 2006
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2006.00645.x
Subject(s) - myoclonic epilepsy , epilepsy , medicine , pediatrics , progressive myoclonus epilepsy , mutation , genetics , psychiatry , biology , gene
Summary: 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 epileptic seizures. Results: Each patient showed nucleotide changes (c.[730G>T; 735G>T; 736A>T]) in the coding exon 6 of SCN1A that led to a truncation of the channel protein. Their father showed no mutations, but their mother showed the same mutation in a subpopulation of lymphocytes. Conclusions: The maternal mosaicism explains the identical SCN1A mutations in the two brothers. This highlights the importance of investigating parental mosaicism even in sporadic SMEI cases.