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1篇 您的检索式:作者名="Mutluay Arslan"
    题名 作者 年代 出处 被引量
1A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey显示文摘Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel α1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.Mutluay Arslan Ulu Yis Hande aglayan Ridvan Akin 2013Neural Regeneration Research2013,8,10:0
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