Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities - Wikidata - wikimedia - TriplyDB

Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities

Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities

http://www.wikidata.org/entity/Q30493834

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Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies Exaggerated Nighttime Sleep and Defective Sleep Homeostasis in a Drosophila Knock-In Model of Human Epilepsy Homeostasis or channelopathy? Acquired cell type-specific ion channel changes in temporal lobe epilepsy and their antiepileptic potential An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior.Prioritizing the development of mouse models for childhood brain disorders Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.GABAergic interneuron development and function is modulated by the Tsc1 gene.Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current.Effect of Seizures on the Developing Brain and Cognition.Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance.Dysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory.Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome Inhibitory RNA in epilepsy: research tools and therapeutic perspectives Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction.Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation Common variants associated with general and MMR vaccine-related febrile seizures.Epileptogenesis after prolonged febrile seizures: mechanisms, biomarkers and therapeutic opportunities.Altered GABA signaling in early life epilepsies.Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.Alternative splicing modulates inactivation of type 1 voltage-gated sodium channels by toggling an amino acid in the first S3-S4 linker.Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus Maturation of EEG oscillations in children with sodium channel mutations.Education of a child neurologist: developmental neuroscience relevant to child neurology.Epilepsy as a neurodevelopmental disorder.Pathophysiological role of omega pore current in channelopathies Vagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness Do structural changes in GABA neurons give rise to the epileptic state?A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure.Dendritic ion channelopathy in acquired epilepsy Model systems for studying cellular mechanisms of SCN1A-related epilepsy.Focal Scn1a knockdown induces cognitive impairment without seizures.A human Dravet syndrome model from patient induced pluripotent stem cells.Genetic variations and associated pathophysiology in the management of epilepsy.Effects of an epilepsy-causing mutation in the SCN1A sodium channel gene on cocaine-induced seizure susceptibility in mice.A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.

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P2860

Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities

http://www.wikidata.org/entity/Q30493834

description

2010 nî lūn-bûn

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2010 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Altered function of the SCN1A ...... gic) interneuron abnormalities

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Altered function of the SCN1A ...... gic) interneuron abnormalities

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Altered function of the SCN1A ...... gic) interneuron abnormalities

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Altered function of the SCN1A ...... gic) interneuron abnormalities

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Altered function of the SCN1A ...... gic) interneuron abnormalities

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Altered function of the SCN1A ...... gic) interneuron abnormalities

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JBC.M109.078568

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Journal of Biological Chemistry

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Altered function of the SCN1A ...... gic) interneuron abnormalities

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Andrew Escayg

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Anupama Shankar

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Céline M Dubé

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Georgius de Haan

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Karoni Dutt

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Ligia A Papale

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Melinda S Martin

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Miriam H Meisler

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Stacey B Dutton

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Tallie Z Baram

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P2860

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels

Molecular basis of an inherited epilepsy

Modification of seizure activity by electrical stimulation. II. Motor seizure

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability

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2010-01-25T00:00:00Z

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20100831

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