Mutations in the KCNA1 gene, which encodes voltage-gated Kv1.1 potassium channel α-subunits, cause a variety of human diseases, complicating simple genotype–phenotype correlations in …

The KCNA1 gene provides instructions for making one part (the alpha subunit) of a potassium channel called Kv1.1. These channels are found in the brain, where they transport potassium …

Potassium voltage-gated channel subfamily A member 1 also known as Kv1.1 is a shaker related voltage-gated potassium channel that in humans is encoded by the KCNA1 gene. [5][6][7] …

Mar 30, 2025 · KCNA1 (Potassium Voltage-Gated Channel Subfamily A Member 1) is a Protein Coding gene. Diseases associated with KCNA1 include Episodic Ataxia, Type 1 and Isolated …

Mutations in the KCNA1 gene are known to cause episodic ataxia/myokymia syndrome type 1 (EA1). Here, we describe two families with unique presentations who were enrolled in an IRB …

Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine. Kv1.1 is important for neural control of the heart and that Kcna1 deletion leads to cardiac dysfunction that appears to …

May 23, 2018 · Mutations in the KCNA1 gene encoding the voltage-gated potassium (K +) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) …

Apr 4, 2024 · KCNA1 is the coding gene for Kv1.1 voltage-gated potassium-channel α subunit. Three variants of KCNA1 have been reported to manifest as paroxysmal kinesigenic …

Loss-of-function (LOF) variants in KCNA1, the gene coding for K V 1.1 channels, are associated with episodic ataxia type 1 (EA1), characterized by seconds to minutes-lasting attacks …

Apr 17, 2020 · Mutations in the KCNA1 gene, which encodes voltage-gated Kv1.1 potassium channel α-subunits, cause a variety of human diseases, complicating simple genotype …