Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

(2016) Joaquín Dopazo et al.   MOLECULAR BIOLOGY AND EVOLUTION

The clinical and genetic heterogeneity of paroxysmal dyskinesias

(2015) Alice R. Gardiner et al.   BRAIN

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

(2015) Catherine A. Brownstein et al.   NEUROGENETICS

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene

(2015) Maria C. D'Adamo et al.   Frontiers in Physiology

Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation

(2014) Tracey D. Graves et al.   BRAIN

PRRT2mutations and paroxysmal disorders

(2013) A. Méneret et al.   EUROPEAN JOURNAL OF NEUROLOGY

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1

(2013) Susan Elizabeth Tomlinson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Potassium channels: a review of broadening therapeutic possibilities for neurological diseases

(2012) Snezana Maljevic et al.   JOURNAL OF NEUROLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes

(2012) R. Guerrini et al.   NEUROLOGY

PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

(2012) A. R. Gardiner et al.   NEUROLOGY

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

(2010) T. D. Graves et al.   NEUROLOGY

A missense mutation in the Kv1.1 voltage-gated potassium channel–encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

(2009) Bob Glaudemans et al.   JOURNAL OF CLINICAL INVESTIGATION

A novelKCNA1mutation associated with global delay and persistent cerebellar dysfunction

(2009) Michelle K. Demos et al.   MOVEMENT DISORDERS