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 …

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 …

Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1. 2,
have been identified as the cause for an evolving spectrum of neurological disorders …

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-
function or a gain-of-function of the voltage-gated K+ channel Kv1. 2, were described to …

Objective Mutations in the genes encoding neuronal ion channels are a common cause of
Mendelian neurological diseases. We sought to identify novel de novo sequence variants in …

The gene kcnma1 encodes the α-subunit of high-conductance calcium-and voltage-
dependent K+ (BK) potassium channel. With the development of generation gene …

ABSTRACT KCNMA1-linked channelopathy is an emerging neurological disorder
characterized by heterogeneous and overlapping combinations of movement disorder …

Background KCNJ3 encodes a subunit of G-protein-coupled inwardly rectifying potassium
channels, which are important for cellular excitability and inhibitory neurotransmission …

Mutations in the KCNA1 gene, encoding the voltage-gated potassium channel Kv1. 1, have
been associated with a spectrum of neurological phenotypes, including episodic ataxia type …

Background KCNC1 encodes Kv3. 1, a subunit of the Kv3 voltage-gated potassium
channels. It is predominantly expressed in inhibitory GABAergic interneurons and cerebellar …