Sodium channels of SCNIA gene mutations in generalized epilepsy with febrile seizure plus (GEFS+) spectrum related to autism

• Главные авторы: Elisabeth Herini (Автор), Yudha Patria (Автор), Gunadi Gunadi (Автор), Surini Yusoff (Автор), Indra SAri Kusuma Harahap (Автор), Sunartini Sunartini (Автор), Sutaryo Sutaryo (Автор), Satoshi Takada (Автор), Hisahide Nishio (Автор)
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• Опубликовано: Indonesian Pediatric Society Publishing House, 2010-06-01T00:00:00Z.
• Предметы: article
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Background Mutations in the a-subunit of the first neuronal sodium channel gene SCNIA have been demonstrated for generalized epilepsy \\lith febrile seizures plus (GEFS+), severe myoclonic epilepsy in infancy (SMEI), and borderline SMEI (SMEB). SCNIA mutations are also described in patients 'Wi...