Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene

Abstract

Sirs: Episodic ataxia type 1 (EA1) is an autosomal dominant disorder ascribed to mutations in KCNA1 encoding voltage-gated delayedrectifier type potassium channels (Kv1.1). Patients typically develop in early childhood brief episodes of cerebellar ataxia and dysarthria with persistent interictal myokymia [9]. We describe a family exhibiting intrafamilial… (More)
DOI: 10.1007/s00415-006-0134-y

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@article{Poujois2006ChronicNA, title={Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene}, author={Aur{\'e}lia Poujois and Prof. J.-Ch. Antoine and Alain Combes and PhD R. L. Touraine}, journal={Journal of Neurology}, year={2006}, volume={253}, pages={957-959} }