Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

BACKGROUND: Since 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been described with mutations in KCNA1, encoding the voltage-gated K(+) channel subunit Kv1.1. All of these mutations are either transmitted in an autosomal-dominant mode or found as de novo events....

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Bibliografische gegevens
Gepubliceerd in:J Med Genet
Hoofdauteurs: Verdura, Edgard, Fons, Carme, Schlüter, Agatha, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, Castellano, Antonio, Pujol, Aurora
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Publishing Group 2020
Onderwerpen:
Neurogenetics
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7029237/
https://ncbi.nlm.nih.gov/pubmed/31586945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106373
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