Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable1.xlsx › SupplementaryTable1_upd
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Verdura E et al.
Journal of Medical Genetics, 2020
Distinctive role of KV1.1 subunit in the biology and functions of low threshold K(+) channels with implications for neurological disease.
Ovsepian SV et al.
Pharmacology & Therapeutics, 2016
The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels.
Chen SH et al.
Scientific Reports, 2016
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.
Tacik P et al.
Mayo Clinic Proceedings, 2015
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
Imbrici P et al.
Neuroscience, 2008
Episodic ataxia type 1: a neuronal potassium channelopathy.
Rajakulendran S et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
Eunson LH et al.
Annals of Neurology, 2000
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