A novelKCNA1mutation associated with global delay and persistent cerebellar dysfunction
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference20 articles.
1. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1;Browne;Nat Genet,1994
2. Hereditary myokymia and periodic ataxia;Van Dyke;J Neurol Sci,1975
3. Familial paroxysmal kinesigenic ataxia and continuous myokymia;Brunt;Brain,1990
4. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy;Zuberi;Brain,1999
5. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability;Eunson;Ann Neurol,2000
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