Article
Episodic ataxia associated with a de novo SCN2A mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2016
Leach Emma L, van Karnebeek Clara D M, Townsend Katelin N, Tarailo-Graovac Maja, Hukin Juliette, Gibson William T
Abstract excerpt
INTRODUCTION: Episodic ataxia (EA) is characterized by paroxysmal attacks of ataxia interspersed by asymptomatic periods. Dominant mutations or copy number variants in CACNA1A are a well-known cause of EA. CLINICAL PRESENTATION: This boy presented with clinical features of episodic ataxia, and also showed cerebellar atrophy, hypotonia, autism and global developmental delay at age 4 years. Acetazolamide prevented...
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