A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes
about
Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domainsA novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 yearsComplete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypesHomomeric and heteromeric assembly of KCNQ (Kv7) K+ channels assayed by total internal reflection fluorescence/fluorescence resonance energy transfer and patch clamp analysis.The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.Neonatal seizures: an update on mechanisms and managementNeonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).Role of genetics in the diagnosis and treatment of epilepsy.Modulation of K(v)7 potassium channels by a novel opener pyrazolo[1,5-a]pyrimidin-7(4H)-one compound QO-58Nervous system KV7 disorders: breakdown of a subthreshold brake.KV7 channelopathies."Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances.HCN and KV7 (M-) channels as targets for epilepsy treatment.Potassium channels: a review of broadening therapeutic possibilities for neurological diseases.A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants.A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists.Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.Kv7 channels regulate pairwise spiking covariability in health and disease.KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype.
P2860
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P2860
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes
description
2003 nî lūn-bûn
@nan
2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
A novel KCNQ2 K+ channel mutat ...... ions and centrotemporal spikes
@ast
A novel KCNQ2 K+ channel mutat ...... ions and centrotemporal spikes
@en
A novel KCNQ2 K+ channel mutat ...... ions and centrotemporal spikes
@nl
type
label
A novel KCNQ2 K+ channel mutat ...... ions and centrotemporal spikes
@ast
A novel KCNQ2 K+ channel mutat ...... ions and centrotemporal spikes
@en
A novel KCNQ2 K+ channel mutat ...... ions and centrotemporal spikes
@nl
prefLabel
A novel KCNQ2 K+ channel mutat ...... ions and centrotemporal spikes
@ast
A novel KCNQ2 K+ channel mutat ...... ions and centrotemporal spikes
@en
A novel KCNQ2 K+ channel mutat ...... ions and centrotemporal spikes
@nl
P2093
P1433
P1476
A novel KCNQ2 K+ channel mutat ...... ions and centrotemporal spikes
@en
P2093
A Pascotto
E Miraglia del Giudice
L Annunziato
L Anzalone
M Taglialatela
M V Soldovieri
P356
10.1212/01.WNL.0000069465.53698.BD
P407
P577
2003-07-08T00:00:00Z