Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
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ChannelopathiesTargeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Potassium Channels and Human Epileptic Phenotypes: An Updated OverviewDefinition and diagnostic criteria of sleep-related hypermotor epilepsyTargeted Treatment in Childhood Epilepsy SyndromesAdvancing epilepsy genetics in the genomic eraMolecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsUsing familial information for variant filtering in high-throughput sequencing studiesParoxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different MechanismsThe sodium-activated potassium channel Slack is required for optimal cognitive flexibility in miceUnderstanding Genotypes and Phenotypes in Epileptic EncephalopathiesGenetic effects on sleep/wake variation of seizures.Sleep-related hypermotor epilepsy: Long-term outcome in a large cohort.Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndromeEmerging role of the KCNT1 Slack channel in intellectual disability.KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidineSLO-2 potassium channel is an important regulator of neurotransmitter release in Caenorhabditis elegansThe hidden genetics of epilepsy-a clinically important new paradigm.More than a pore: ion channel signaling complexesPRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsyA de novo missense mutation of GABRB2 causes early myoclonic encephalopathyAn ALS-Associated Mutant SOD1 Rapidly Suppresses KCNT1 (Slack) Na+-Activated K+ Channels in Aplysia NeuronsCommon variants associated with general and MMR vaccine-related febrile seizures.Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.Application of next-generation sequencing technologies in Neurology.Functional characterization of a CRH missense mutation identified in an ADNFLE family.Clinical exome sequencing for genetic identification of rare Mendelian disorders.Human slack potassium channel mutations increase positive cooperativity between individual channelsIdentification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population.Prevalence of nocturnal frontal lobe epilepsy in the adult population of Bologna and Modena, Emilia-Romagna region, ItalyA new model to study sleep deprivation-induced seizure.Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity α4β2, and Increases α5α4β2, Nicotinic Receptor Surface ExpressionKnockout of Slo2.2 enhances itch, abolishes KNa current, and increases action potential firing frequency in DRG neurons.Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome SequencingGenetics of hereditary neurological disorders in childrenSlack sodium-activated potassium channel membrane expression requires p38 mitogen-activated protein kinase phosphorylation.Quinidine in the treatment of KCNT1-positive epilepsies
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Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
description
article
@en
im Oktober 2012 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в жовтні 2012
@uk
name
Missense mutations in the sodi ...... octurnal frontal lobe epilepsy
@en
Missense mutations in the sodi ...... octurnal frontal lobe epilepsy
@nl
type
label
Missense mutations in the sodi ...... octurnal frontal lobe epilepsy
@en
Missense mutations in the sodi ...... octurnal frontal lobe epilepsy
@nl
prefLabel
Missense mutations in the sodi ...... octurnal frontal lobe epilepsy
@en
Missense mutations in the sodi ...... octurnal frontal lobe epilepsy
@nl
P2093
P2860
P50
P356
P1433
P1476
Missense mutations in the sodi ...... octurnal frontal lobe epilepsy
@en
P2093
Aziz Mazarib
Esther Kahana
Katherine R Smith
Laura Licchetta
Leanne M Dibbens
Melanie Bahlo
Zaid Afawi
P2860
P2888
P304
P356
10.1038/NG.2440
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P50
P577
2012-10-21T00:00:00Z
P6179
1039387323