Familial SCN1A missense mutation over three generations, from febrile seizures to severe myoclonic epilepsy in infancy.

التفاصيل البيبلوغرافية
العنوان:	Familial SCN1A missense mutation over three generations, from febrile seizures to severe myoclonic epilepsy in infancy.
المؤلفون:	Hofmann, Caroline, Baur, Marc-Oliver, Skladny, Heyko
المصدر:	Journal of Pediatric Neurology; 2011, Vol. 9 Issue 1, p55-58, 4p
مستخلص:	Mutations of the sodium channel alpha subunit type 1 gene (SCN1A) gene, encoding the voltage gated sodium channel alpha-subunit, represent the most frequent genetic cause of severe myoclonic epilepsy in infancy (SMEI). So far over 250 SMEI related SCN1A mutations have been identified of which 95% are considered de novo. We report a familial SCN1A missense mutation over three generations with extremely variable phenotypes, from simple febrile seizures to SMEI. [ABSTRACT FROM AUTHOR]
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قاعدة البيانات:	Complementary Index

الوصف
تدمد:	13042580