KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum
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Ion channel clustering at the axon initial segment and node of Ranvier evolved sequentially in early chordatesPolarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domainsDiscovery, Synthesis, and Structure–Activity Relationship of a Series of N -Aryl-bicyclo[2.2.1]heptane-2-carboxamides: Characterization of ML213 as a Novel KCNQ2 and KCNQ4 Potassium Channel OpenerNeuronal and Cardiovascular Potassium Channels as Therapeutic Drug Targets: Promise and PitfallsAdvancing epilepsy genetics in the genomic eraGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsSearching for new targets for treatment of pediatric epilepsyHyper-SUMOylation of the Kv7 potassium channel diminishes the M-current leading to seizures and sudden death.Structure of a Ca2+/CaM:Kv7.4 (KCNQ4) B-Helix Complex Provides Insight into M Current ModulationSeizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune AspectsA 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 phenotypesArrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 MutationsPotent KCNQ2/3-specific channel activator suppresses in vivo epileptic activity and prevents the development of tinnitusExtending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.KCNQ-like potassium channels in Caenorhabditis elegans. Conserved properties and modulation.Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.Neonatal seizures: an update on mechanisms and managementAxonal Membranes and Their Domains: Assembly and Function of the Axon Initial Segment and Node of Ranvier.Genetic basis of pediatric epilepsy syndromes.Potassium dynamics in the epileptic cortex: new insights on an old topic.GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy.Isoform-specific prolongation of Kv7 (KCNQ) potassium channel opening mediated by new molecular determinants for drug-channel interactionsVoltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.Novel genetic causes for cerebral visual impairmentGenes associated with idiopathic epilepsies: a current overview.Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.Made for "anchorin": Kv7.2/7.3 (KCNQ2/KCNQ3) channels and the modulation of neuronal excitability in vertebrate axons.Ability of naringenin, a bioflavonoid, to activate M-type potassium current in motor neuron-like cells and to increase BKCa-channel activity in HEK293T cells transfected with α-hSlo subunit.Effects of KCNQ2 gene truncation on M-type Kv7 potassium currentsThe therapeutic potential of neuronal KCNQ channel modulators.A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy.Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's diseaseNeonatal seizures: controversies and challenges in translating new therapies from the lab to the isolette.The state of the art in the genetic analysis of the epilepsiesMigration of PIP2 lipids on voltage-gated potassium channel surface influences channel deactivationNeonatal encephalopathy, MRI lesions, and later epilepsy: no harm, no foul?Sacred disease secrets revealed: the genetics of human epilepsy.
P2860
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P2860
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին 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
KCNQ2 and KCNQ3 potassium chan ...... nctional and mutation spectrum
@ast
KCNQ2 and KCNQ3 potassium chan ...... nctional and mutation spectrum
@en
KCNQ2 and KCNQ3 potassium chan ...... nctional and mutation spectrum
@nl
type
label
KCNQ2 and KCNQ3 potassium chan ...... nctional and mutation spectrum
@ast
KCNQ2 and KCNQ3 potassium chan ...... nctional and mutation spectrum
@en
KCNQ2 and KCNQ3 potassium chan ...... nctional and mutation spectrum
@nl
prefLabel
KCNQ2 and KCNQ3 potassium chan ...... nctional and mutation spectrum
@ast
KCNQ2 and KCNQ3 potassium chan ...... nctional and mutation spectrum
@en
KCNQ2 and KCNQ3 potassium chan ...... nctional and mutation spectrum
@nl
P2093
P50
P356
P1433
P1476
KCNQ2 and KCNQ3 potassium chan ...... nctional and mutation spectrum
@en
P2093
BFNC Physician Consortium
Chris Pappas
Jessica Dillon
Mark F Leppert
Michael C Sanguinetti
Nanda A Singh
V Elving Anderson
P304
P356
10.1093/BRAIN/AWG286
P407
P577
2003-10-08T00:00:00Z