Article
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
Annals of neurology - 1 Oct 2000
Eunson L H, Rea R, Zuberi S M, Youroukos S, Panayiotopoulos C P, Liguori R, Avoni P, McWilliam R C, Stephenson J B, Hanna M G, Kullmann D M, Spauschus A
Abstract excerpt
Episodic ataxia type 1 (EA1) is an autosomal dominant central nervous system potassium channelopathy characterized by brief attacks of cerebellar ataxia and continuous interictal myokymia. Point mutations in the voltage-gated potassium channel gene KCNA1 on chromosome 12p associate with EA1. We have studied 4 families and identified three new and one previously reported heterozygous point mutations in this gene....
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