Episodic ataxia associated with a de novo SCN2A mutation.

Emma L Leach,Clara D M van Karnebeek,Katelin N Townsend,Maja Tarailo-Graovac,Juliette Hukin,William T Gibson

European Journal of Paediatric Neurology（2016）

引用 25|浏览16

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摘要

•Exome sequencing broadens genotype-phenotype correlations in known paediatric neurological conditions.•A novel, dominant SCN2A genetic variant associated with episodic ataxia phenotype.•Acetazolamide may be an effective treatment for a non-CACNA1A channelopathy.

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关键词

Episodic ataxia,SCN2A,Acetazolamide,Cerebellar atrophy,Treatment,Channelopathy

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