KCNA1

Publications

Browne DL et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nature Genet. 8: 136-140, 1994. PMID: 7842011.

Eunson LH et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann. Neurol. 48: 647-656, 2000. PMID: 11026449.

Glaudemans B et al. A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J. Clin. Invest. 119: 936-942, 2009. PMID: 19307729.

Verdura E et al. Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia. J Med Genet 2020;57:132–137. PMID: 31586945.