A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation
about
Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domainsStructure of a Ca2+/CaM:Kv7.4 (KCNQ4) B-Helix Complex Provides Insight into M Current ModulationObtaining genetic testing in pediatric epilepsyA novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 yearsFunctional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC)Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 MutationsClinical predictors of 2-year outcome of resective epilepsy surgery in adults with refractory epilepsy: a cohort studyThe first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.Genetic regulation of gene expression in the epileptic human hippocampus.Polarized axonal surface expression of neuronal KCNQ potassium channels is regulated by calmodulin interaction with KCNQ2 subunit.Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures.Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.The hidden genetics of epilepsy-a clinically important new paradigm.The kick-in system: a novel rapid knock-in strategy.Sacred disease secrets revealed: the genetics of human epilepsy.Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).Neonatal epilepsy syndromes and GEFS+: mechanistic considerations.Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.Channelopathies in idiopathic epilepsy.Genetic variations and associated pathophysiology in the management of epilepsy.Nervous system KV7 disorders: breakdown of a subthreshold brake.What's new in: "genetics in childhood epilepsy".KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.Genetic mechanisms in idiopathic epilepsies.KV7 channelopathies.Genetic biomarkers in epilepsy.Differential Regulation of PI(4,5)P2 Sensitivity of Kv7.2 and Kv7.3 Channels by Calmodulin.Modulation of Kv7 channels and excitability in the brain.The role of genetic testing in epilepsy diagnosis and management.Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.Genetic and epigenetic mechanisms of epilepsy: a review.Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?Pivoting between calmodulin lobes triggered by calcium in the Kv7.2/calmodulin complex.KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.Ca(2+)-Calmodulin and PIP2 interactions at the proximal C-terminus of Kv7 channels.Site-directed mutagenesis of neonatal convulsions associated KCNQ2 gene and its protein expression.Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
P2860
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P2860
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation
description
2004 nî lūn-bûn
@nan
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
name
A novel mutation in KCNQ2 asso ...... ilepsy, and mental retardation
@ast
A novel mutation in KCNQ2 asso ...... ilepsy, and mental retardation
@en
A novel mutation in KCNQ2 asso ...... ilepsy, and mental retardation
@nl
type
label
A novel mutation in KCNQ2 asso ...... ilepsy, and mental retardation
@ast
A novel mutation in KCNQ2 asso ...... ilepsy, and mental retardation
@en
A novel mutation in KCNQ2 asso ...... ilepsy, and mental retardation
@nl
prefLabel
A novel mutation in KCNQ2 asso ...... ilepsy, and mental retardation
@ast
A novel mutation in KCNQ2 asso ...... ilepsy, and mental retardation
@en
A novel mutation in KCNQ2 asso ...... ilepsy, and mental retardation
@nl
P2093
P3181
P1433
P1476
A novel mutation in KCNQ2 asso ...... ilepsy, and mental retardation
@en
P2093
A Cavallini
B Dalla Bernardina
C Baschirotto
M Ferrario
M Taglialatela
M V Soldovieri
N Bresolin
P3181
P356
10.1212/01.WNL.0000132979.08394.6D
P407
P577
2004-07-13T00:00:00Z