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Yen-Chen Anne Feng et al.
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Yuanyuan Liu et al.
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From next-generation sequencing to targeted treatment of non-acquired epilepsies
Rikke S. Moller et al.
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Julia Oyrer et al.
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Henrike O. Heyne et al.
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Multi-ethnic genome-wide association study for atrial fibrillation
Carolina Roselli et al.
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UniProt: the universal protein knowledgebase (vol 45, pg D158, 2017)
Alexandre Renaux
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Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy
Geza Berecki et al.
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Stephan J. Sanders et al.
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Katherine D. Holland et al.
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Xiaojing Pan et al.
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Michael Clerx et al.
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Katherine L. Helbig et al.
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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Bassel Abou-Khalil et al.
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Brett M. Kroncke et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2018)
The Human Phenotype Ontology in 2017
Sebastian Koehler et al.
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Using high-resolution variant frequencies to empower clinical genome interpretation
Nicola Whiffin et al.
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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson et al.
HUMAN GENETICS (2017)
plotROC: A Tool for Plotting ROC Curves
Michael C. Sachs
JOURNAL OF STATISTICAL SOFTWARE (2017)
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels
Weiyun Huang et al.
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Bian Li et al.
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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes
Stefan H. Lelieveld et al.
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Roy Ben-Shalom et al.
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Markus Wolff et al.
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Calmodulin and Ca2+ control of voltage gated Na+ channels
Sandra B. Gabelli et al.
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Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers
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ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
Candace T. Myers et al.
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The α2δ-1 subunit remodels CaV1.2 voltage sensors and allows Ca2+ influx at physiological membrane potentials
Nicoletta Savalli et al.
JOURNAL OF GENERAL PHYSIOLOGY (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
Giulio Genovese et al.
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Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study
Frederick E. Dewey et al.
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A rare schizophrenia risk variant of CACNA1I disrupts CaV3.3 channel activity
A. Andrade et al.
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The Ensembl Variant Effect Predictor
William McLaren et al.
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Lena Damaj et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
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
Sue Richards et al.
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De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
Maxime G. Blanchard et al.
JOURNAL OF MEDICAL GENETICS (2015)
A roadmap for precision medicine in the epilepsies
F. Berkovic et al.
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The phenotypic spectrum of SCN8A encephalopathy
Jan Larsen et al.
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Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders
Samuel Heyes et al.
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The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
Kristin G. Ardlie et al.
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Low-dose fenfluramine in the treatment of neurologic disorders: experience in Dravet syndrome
An-Sofie Schoonjans et al.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS (2015)
A series of PDB-related databanks for everyday needs
Wouter G. Touw et al.
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Channelopathies of Skeletal Muscle Excitability
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Structural Basis for Pharmacology of Voltage-Gated Sodium and Calcium Channels
William A. Catterall et al.
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RAxML version 8: a tool for phylogenetic analysis and post-analysis of large phylogenies
Alexandros Stamatakis
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Consensus Paper: Management of Degenerative Cerebellar Disorders
W. Ilg et al.
CEREBELLUM (2014)
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes
Megumi Fukuyama et al.
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Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia
Roddy Walsh et al.
JOURNAL OF MEDICAL GENETICS (2014)
Genotype phenotype associations across the voltage-gated sodium channel family
Andreas Brunklaus et al.
JOURNAL OF MEDICAL GENETICS (2014)
The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability
Chongyang Han et al.
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Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use
Stephen G. Waxman et al.
LANCET NEUROLOGY (2014)
Biological insights from 108 schizophrenia-associated genetic loci
Stephan Ripke et al.
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A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Functional heterogeneity of the four voltage sensors of a human L-type calcium channel
Antonios Pantazis et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Biophysics, pathophysiology, and pharmacology of ion channel gating pores
Adrien Moreau et al.
FRONTIERS IN PHARMACOLOGY (2014)
What can naturally occurring mutations tell us about Cav1.x channel function?
Thomas Stockner et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2013)
Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C, Linked to Autosomal Dominant Long QT Syndrome
Nicole J. Boczek et al.
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Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
Ute I. Scholl et al.
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Molecular Bases for the Asynchronous Activation of Sodium and Potassium Channels Required for Nerve Impulse Generation
Jerome J. Lacroix et al.
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Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects
Sandrine Cestele et al.
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Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings
Robert A. Power et al.
JAMA PSYCHIATRY (2013)
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
A. Brunklaus et al.
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Voltage-gated sodium channel-associated proteins and alternative mechanisms of inactivation and block
Mitchell Goldfarb
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Paralogous annotation of disease-causing variants in long QT syndrome genes
James S. Ware et al.
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Template-based protein structure modeling using the RaptorX web server
Morten Kaellberg et al.
NATURE PROTOCOLS (2012)
KvSNP: accurately predicting the effect of genetic variants in voltage-gated potassium channels
L. F. Stead et al.
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NaV1.1 channels and epilepsy
William A. Catterall et al.
JOURNAL OF PHYSIOLOGY-LONDON (2010)
EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates
Albert J. Vilella et al.
GENOME RESEARCH (2009)
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
E. Matthews et al.
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Primary episodic ataxias: diagnosis, pathogenesis and treatment
J. C. Jen et al.
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Gating pore current in an inherited ion channelopathy
Stanislav Sokolov et al.
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SCN9A mutations in paroxysmal extreme pain disorder:: Allelic variants underlie distinct channel defects and phenotypes
Caroline R. Fertleman et al.
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The S4-S5 linker directly couples voltage sensor movement to the activation gate in the human ether-a′-go-go-related gene (hERG) K+ channel
T Ferrer et al.
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Estimating diversifying selection and functional constraint in the presence of recombination
DJ Wilson et al.
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Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina
F Mansergh et al.
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Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
M Dichgans et al.
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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
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MUSCLE: multiple sequence alignment with high accuracy and high throughput
RC Edgar
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Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy
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Cav1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
I Splawski et al.
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Tracking voltage-dependent conformational changes in skeletal muscle sodium channel during activation
B Chanda et al.
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Greedy function approximation: A gradient boosting machine
JH Friedman
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De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
L Claes et al.
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Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial
C Chiron et al.
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Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tgrol)
Y Mori et al.
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Assessing the accuracy of prediction algorithms for classification: an overview
P Baldi et al.
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