Article

Novel Genetic Variants Expand the Functional, Molecular and Pathological Diversity of KCNA1 Channelopathy

2023-04-28

Abstract excerpt

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 the KCNA1 gene can cause several neurological diseases and symptoms, such as episodic ataxia and epilepsy, which may occur alone or in combination, making it challenging to establish simple genotype-phenotype correlations. Previous analyse...

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Literature Corpus work: 4383914f-0c95-520c-a2a0-8c97e13b8f8b
DOI: 10.20944/preprints202304.1118.v1

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