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Updated: Feb 4, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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一个De NovoSCN2A混合变体的功能性表征与婴儿早期发育和性脑病相关

Anna Corradi1,2, Antonella Riva3, Bruno Sterlini1,2

  • 1Department of Experimental Medicine, University of Genoa, Italy.

Neurology. Genetics
|February 3, 2026
PubMed
概括

在SCN2A基因的致病变体导致各种神经系统疾病. 该A1659V变体导致DEE不对通道阻断剂产生反应,通过改变通道功能和增加神经元刺激性.

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