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Article

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

American journal of medical genetics. Part A - 1 Aug 2018

Rogers Amanda, Golumbek Paul, Cellini Elena, Doccini Viola, Guerrini Renzo, Wallgren-Pettersson Carina, Thuresson Ann-Charlotte, Gurnett Christina A

Abstract excerpt

Derangements in voltage-gated potassium channel function are responsible for a range of paroxysmal neurologic disorders. Pathogenic variants in the KCNA1 gene, which encodes the voltage-gated potassium channel Kv1.1, are responsible for Episodic Ataxia Type 1 (EA1). Patients with EA1 have an increased incidence of epilepsy, but KCNA1 variants have not been described in epileptic encephalopathy. Here, we describe...

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Identifiers

PMID: 30055040
DOI: 10.1002/ajmg.a.38840

Genes

KCNA1
KCNA2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.PMID 30055040Read ↗

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