A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels.

Ann Clin Transl NeurolSep 21, 2026 (epub)
Case ReportMedical GeneticsNeurologyOpen access

Juan Darío Ortigoza-Escobar, Laura Marti-Sánchez, Loreto Martorell et al.

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Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16-year-old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy.

Source

PubMed · PMID 42768297Free full text on PubMed Central

Published in Ann Clin Transl Neurol. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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