A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
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12p13 Google OMIM Orphanet PubMed Wikipedia Episodic ataxia, type 1 *Gene map locus 12p13 AEM AEMK Ataxia, episodic, with myokymia Continuous muscle fiber activity, hereditary EA1 EAM Episodic ataxia with myokymia Isaacs-Mertens syndrome Myokymia Myokymia with periodic ataxia Paroxysmal ataxia with neuromyotonia, hereditary [Clinical features: brief episodes of ataxia associated with continuous interattack myokymia] [Inheritance: autosomal dominant] |
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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy |
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Edited by Aldo Campana,
August 21, 2012
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