… Discussion We have shown that episodic ataxia/myokymia is associated with mutationsin
highly conservedamino acid residues of the Shaker-related voltage gated K" channel gene, …

… We describe a Scottish family with EA1 in whom a point mutation has been identified in
the voltage-gated potassium … Episodic ataxia/myokymia syndrome is associated with point …

… EA-1 has been genetically linked to mutations in the coding region of a voltage-gated
potassium ion channel gene (Kv1.1) of the Shaker subfamily.5., 16. Seven different point mutations …

… described a Scottish family with EA-1 in whom a point mutation (T226R) in KCNA1 was
identified. … Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium …

… (VV h )/k, where τ Vh is the time constant at the mid-point activation voltage (V h ) of the
channels, and k is the slope factor for the voltage-dependence of the time constants. …

… mutation in this family with autosomal dominant episodic ataxia was a previously unidentified
missense mutation … Clinical, genetic, and expression studies of mutations in the potassium …

… Different point mutations have been reported with phenotypic variability between … Episodic
ataxia/myokymia syndrome is associated with point mutations in the human potassium …

… Pathogenic variants in genes encoding potassium channels cause several neurological
diseases, including benign familial neonatal seizures (KCNQ2, KCNQ3), neonatal epileptic …

… in which the same point mutation in the voltage-gated potassium channel gene KCNA1 …
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium …

… families with KCNA1-associated disease [3, 4]. Another rare cause of myokymia with neonatal
epilepsy but lacking episodic ataxia results from a KCNQ2 potassium channel mutation [5]…