Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene

Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

(2017) Esther A.R. Nibbeling et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

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

(2016) Enriqueta Tristán-Clavijo et al.   MOVEMENT DISORDERS

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia

(2016) Tiago A. Mestre et al.   NEUROGENETICS

Distinctive role of KV1.1 subunit in the biology and functions of low threshold K+ channels with implications for neurological disease

(2016) Saak V. Ovsepian et al.   PHARMACOLOGY & THERAPEUTICS

Paroxysmal movement disorders: An update

(2016) A. Méneret et al.   REVUE NEUROLOGIQUE

The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels

(2016) Szu-Han Chen et al.   Scientific Reports

PRRT2 Is a Key Component of the Ca 2+ -Dependent Neurotransmitter Release Machinery

(2016) Pierluigi Valente et al.   Cell Reports

The clinical and genetic heterogeneity of paroxysmal dyskinesias

(2015) Alice R. Gardiner et al.   BRAIN

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

(2015) Catherine A. Brownstein et al.   NEUROGENETICS

Psychogenic Movement Disorders

(2015) Mary Ann Thenganatt et al.   NEUROLOGIC CLINICS

Paroxysmal kinesigenic dyskinesia

(2015) Xiao-Jun Huang et al.   NEUROLOGY

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

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

(2013) Sarah E Heron et al.   JOURNAL OF MEDICAL GENETICS

Altered inhibitory modulation of somatosensory cortices in paroxysmal kinesigenic dyskinesia

(2013) Wan-Yu Hsu et al.   MOVEMENT DISORDERS

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response

(2013) H.-F. Li et al.   NEUROLOGY

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases

(2013) Jun-Ling Wang et al.   NEUROSCIENCE LETTERS

Psychogenic paroxysmal movement disorders – Clinical features and diagnostic clues

(2013) Christos Ganos et al.   PARKINSONISM & RELATED DISORDERS

NovelPRRT2mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes

(2012) X.-R. Liu et al.   GENES BRAIN AND BEHAVIOR

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

(2012) Snezana Maljevic et al.   JOURNAL OF NEUROLOGY

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

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

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

(2012) Yi-Chung Lee et al.   PLoS One

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

(2011) J.-L. Wang et al.   BRAIN

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

(2011) Wan-Jin Chen et al.   NATURE GENETICS

Nerve excitability studies characterize KV1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1

(2010) Susan E. Tomlinson et al.   BRAIN

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

(2010) Jun Ling Wang et al.   BRAIN

SYMPOSIUM REVIEW: Going native: voltage-gated potassium channels controlling neuronal excitability

(2010) Jamie Johnston et al.   JOURNAL OF PHYSIOLOGY-LONDON

Psychogenic chorea associated with family history of Huntington disease

(2010) Robert Fekete et al.   MOVEMENT DISORDERS

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

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

Functional Analysis of the Kv1.1 N255D Mutation Associated with Autosomal Dominant Hypomagnesemia

(2009) Jenny van der Wijst et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

The basal ganglia and cerebellum interact in the expression of dystonic movement

(2008) V. K. Neychev et al.   BRAIN

Novel mutation inKCNA1 causes episodic ataxia with paroxysmal dyspnea

(2007) Steven J. Shook et al.   MUSCLE & NERVE