Article
Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2018
Yang Cuiwei, Hua Yi, Zhang Weiqin, Xu Jialu, Xu Lu, Gao Feng, Jiang Peifang
Abstract excerpt
Up to now, SCN9A mutations encoding Nav1.7 have been limited to inherited pain syndromes. A few of pathogenic SCN9A mutations with or without SCN1A mutations have been identified in epileptic patients. Here, we report two heterozygous SCN9A mutations with no SCN1A mutations, which are associated with variable epilepsy phenotypes and explored the possibility of SCN9A contributing to a multifactorial etiology for...
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