Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity

Neuron-specific Kv1.1 deficiency is sufficient to cause epilepsy, premature death, and cardiorespiratory dysregulation

(2020) Krystle Trosclair et al.   NEUROBIOLOGY OF DISEASE

Paroxysmal movement disorders: Recent advances and proposal of a classification system

(2019) Xiao-jin Zhang et al.   PARKINSONISM & RELATED DISORDERS

Cardiorespiratory profiling reveals primary breathing dysfunction in Kcna1-null mice: Implications for sudden unexpected death in epilepsy

(2019) Hemangini Dhaibar et al.   NEUROBIOLOGY OF DISEASE

A Kinetic Map of the Homomeric Voltage-Gated Potassium Channel (Kv) Family

(2019) Rajnish Ranjan et al.   Frontiers in Cellular Neuroscience

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

(2019) Edgard Verdura et al.   JOURNAL OF MEDICAL GENETICS

Respiratory dysfunction progresses with age in Kcna1 -null mice, a model of sudden unexpected death in epilepsy

(2018) Kristina A. Simeone et al.   EPILEPSIA

SWISS-MODEL: homology modelling of protein structures and complexes

(2018) Andrew Waterhouse et al.   NUCLEIC ACIDS RESEARCH

Commentary: A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

(2018) Sonia Hasan et al.   Frontiers in Cellular Neuroscience

Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes

(2018) Laura Zima et al.   Annals of Clinical and Translational Neurology

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

(2018) Amanda Rogers et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I

(2018) Zeynep S. Karalok et al.   Frontiers in Neurology

Genetic ablation or pharmacological inhibition of Kv1.1 potassium channel subunits impairs atrial repolarization in mice

(2018) Man Si et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

BAD knockout provides metabolic seizure resistance in a genetic model of epilepsy with sudden unexplained death in epilepsy

(2017) Jeannine Foley et al.   EPILEPSIA

Scn2a deletion improves survival and brain–heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP)

(2017) Vikas Mishra et al.   HUMAN MOLECULAR GENETICS

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

(2017) Xiao-Meng Yin et al.   HUMAN MOLECULAR GENETICS

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions

(2017) Paola Imbrici et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing

(2017) Elizabeth A. Ferrick-Kiddie et al.   Scientific Reports

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

(2017) Sonia Hasan et al.   Scientific Reports

Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept

(2016) Katherine B. Howell et al.   EPILEPSIA

Ketogenic diet treatment increases longevity inKcna1-null mice, a model of sudden unexpected death in epilepsy

(2016) Kristina A. Simeone et al.   EPILEPSIA

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

(2016) Elena Parrini et al.   HUMAN MUTATION

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

Orexin Receptor Antagonism Improves Sleep and Reduces Seizures in Kcna1-null Mice

(2016) Harrison M. Roundtree et al.   SLEEP

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

Orexin Receptor Antagonism Improves Sleep and Reduces Seizures in Kcna1-null Mice

(2016) Harrison M. Roundtree et al.   SLEEP

Expression and function of Kv1.1 potassium channels in human atria from patients with atrial fibrillation

(2015) Edward Glasscock et al.   BASIC RESEARCH IN CARDIOLOGY

Structure of potassium channels

(2015) Qie Kuang et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

Spontaneous seizures in Kcna1 -null mice lacking voltage-gated Kv1.1 channels activate Fos expression in select limbic circuits

(2015) Nicole M. Gautier et al.   JOURNAL OF NEUROCHEMISTRY

A Disease Mutation Causing Episodic Ataxia Type I in the S1 Links Directly to the Voltage Sensor and the Selectivity Filter in Kv Channels

(2015) D. Petitjean et al.   JOURNAL OF NEUROSCIENCE

Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

(2015) Pawel Tacik et al.   MAYO CLINIC PROCEEDINGS

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

(2015) Steffen Syrbe et al.   NATURE GENETICS

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

(2015) Catherine A. Brownstein et al.   NEUROGENETICS

Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels

(2015) Francesco Miceli et al.   Frontiers in Cellular Neuroscience

New insights into the pathogenesis and therapeutics of episodic ataxia type 1

(2015) Maria Cristina D’Adamo et al.   Frontiers in Cellular Neuroscience

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

The Kv1.1 null mouse, a model of sudden unexpected death in epilepsy (SUDEP)

(2014) Brian M. Moore et al.   EPILEPSIA

Conformational Dynamics of Shaker-Type Kv1.1 Ion Channel in Open, Closed, and Two Mutated States

(2014) Rajabrata Bhuyan et al.   JOURNAL OF MEMBRANE BIOLOGY

A novelKCNA1mutation causing episodic ataxia type I

(2014) Saskia Lassche et al.   MUSCLE & NERVE

The Conserved Phenylalanine in the K+ Channel Voltage-Sensor Domain Creates a Barrier with Unidirectional Effects

(2013) Christine S. Schwaiger et al.   BIOPHYSICAL JOURNAL

High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile

(2013) Tara L. Klassen et al.   EPILEPSIA

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

Tau Loss Attenuates Neuronal Network Hyperexcitability in Mouse and Drosophila Genetic Models of Epilepsy

(2013) J. K. Holth et al.   JOURNAL OF NEUROSCIENCE

Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes

(2012) Jing Zhu et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Kv1.1 and Kv1.2: Similar channels, different seizure models

(2012) Carol A. Robbins et al.   EPILEPSIA

Voltage-gated potassium channels and the diversity of electrical signalling

(2012) Lily Yeh Jan et al.   JOURNAL OF PHYSIOLOGY-LONDON

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature

(2012) Orazio Brunetti et al.   NEUROBIOLOGY OF DISEASE

Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain

(2011) Paola Imbrici et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures

(2011) Saeko Ishida et al.   BRAIN RESEARCH

RNA editing of Kv1.1 channels may account for reduced ictogenic potential of 4-aminopyridine in chronic epileptic rats

(2011) Anne Kathrin Streit et al.   EPILEPSIA

Dravet syndrome and parent associations: The IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief

(2011) Joan V. Skluzacek et al.   EPILEPSIA

Control of a final gating charge transition by a hydrophobic residue in the S2 segment of a K+ channel voltage sensor

(2011) J. J. Lacroix et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K+channels to S6 flexibility and gating properties

(2010) Paola Imbrici et al.   Channels

Kv1.1 Potassium Channel Deficiency Reveals Brain-Driven Cardiac Dysfunction as a Candidate Mechanism for Sudden Unexplained Death in Epilepsy

(2010) E. Glasscock et al.   JOURNAL OF NEUROSCIENCE

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

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

Ancillary Subunits Associated With Voltage-Dependent K+ Channels

(2010) Olaf Pongs et al.   PHYSIOLOGICAL REVIEWS

Structure of the full-length Shaker potassium channel Kv1.2 by normal-mode-based X-ray crystallographic refinement

(2010) X. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Gating Charge Transfer Center in Voltage Sensors

(2010) X. Tao et al.   SCIENCE

Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release

(2009) J. H. Heeroma et al.   Disease Models & Mechanisms

Ketogenic diet treatment abolishes seizure periodicity and improves diurnal rhythmicity in epilepticKcna1-null mice

(2009) Kristina A. Fenoglio-Simeone et al.   EPILEPSIA

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

Late onset hereditary episodic ataxia

(2009) M Damak et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A novelKCNA1mutation associated with global delay and persistent cerebellar dysfunction

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

A PATIENT WITH EPISODIC ATAXIA AND PARAMYOTONIA CONGENITA DUE TO MUTATIONS IN KCNA1 AND SCN4A

(2009) S. Rajakulendran et al.   NEUROLOGY

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1

(2008) P. Imbrici et al.   NEUROSCIENCE

Microtubule-associated protein tau in development, degeneration and protection of neurons

(2008) Jian-Zhi Wang et al.   PROGRESS IN NEUROBIOLOGY

Differential Regulation of Dynein and Kinesin Motor Proteins by Tau

(2008) R. Dixit et al.   SCIENCE

Novel mutation inKCNA1 causes episodic ataxia with paroxysmal dyspnea

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