Kv1. 1 belongs to the Shaker subfamily of voltage-gated potassium channels and acts as a
critical regulator of neuronal excitability in the central and peripheral nervous systems …

Voltage-gated potassium (Kv) channels are widely expressed in the central and peripheral
nervous system and are crucial mediators of neuronal excitability. Importantly, these …

Objective: To identify the causative gene in spinocerebellar ataxia (SCA) 22, an autosomal
dominant cerebellar ataxia mapped to chromosome 1p21‐q23. Methods: We previously …

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 …

Background: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar
dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders …

Primary hypomagnesemia is a heterogeneous group of disorders characterized by renal or
intestinal magnesium (Mg2+) wasting, resulting in tetany, cardiac arrhythmias, and seizures …

Paroxysmal movement disorders (PMDs) are rare neurological diseases typically
manifesting with intermittent attacks of abnormal involuntary movements. Two main …

Episodic ataxia type 1 is considered a rare neuronal ion channel disorder characterized by
brief attacks of unsteadiness and dizziness with persistent myokymia. To characterize the …

The KCNA1 gene encodes Kv1. 1 voltage-gated potassium channel α subunits, which are
crucial for maintaining healthy neuronal firing and preventing hyperexcitability. Mutations in …

Episodic ataxia type 1 (EA1) is a K+ channelopathy characterized by a broad spectrum of
symptoms. Generally, patients may experience constant myokymia and dramatic episodes of …