Expanding the genotype-phenotype spectrum in SCN8A-related disorders.

Malavika Hebbar,Nawaf Al-Taweel,Inderpal Gill,Cyrus Boelman,Richard A Dean,Samuel J Goodchild,Janette Mezeyova,Noah Gregory Shuart,J P Johnson,James Lee,Aspasia Michoulas,Linda L Huh,Linlea Armstrong,Mary B Connolly,Michelle K Demos

Research square（2023）

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摘要

SCN8ASCN8AMethods:In this study, we describe clinical and genetic results on eight individuals from six families with SCN8AResults:Clinical findings ranged from normal development with well-controlled epilepsy to significant developmental delay with treatment-resistant epilepsy. Three novel and three reported variants were observed in SCN8AConclusions:This work expands the clinical and genotypic spectrum of SCN8ASCN8A

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关键词

disorders,genotype-phenotype,a-related

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