SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy

被引：55

作者：

Morimoto, Masafumi ^{[1
]}

Mazaki, Emi ^{[1
]}

Nishimura, Akira ^{[1
]}

Chiyonobu, Tomohiro ^{[1
]}

Sawai, Yasuko ^{[1
]}

Murakami, Aki ^{[1
]}

Nakamura, Keiko ^{[1
]}

Inoue, Ikuyo ^{[1
]}

Ogiwara, Ikuo ^{[1
]}

Sugimoto, Tohru ^{[1
]}

Yamakawa, Kazuhiro ^{[1
]}

机构：

[1] Kyoto Prefectural Univ Med, Dept Pediat, Kamigyo Ku, Kyoto 6028566, Japan

来源：

EPILEPSIA | 2006年 / 47卷 / 10期

关键词：

severe myoclonic epilepsy in infancy; SCN1A; mosaicism;

D O I：

10.1111/j.1528-1167.2006.00645.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1732 / 1736

页数：5

共 50 条

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