Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. - Wikidata - awgldk - TriplyDB

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

http://www.wikidata.org/entity/Q35375026

about

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP Nav1.1 modulation by a novel triazole compound attenuates epileptic seizures in rodents Synaptic, transcriptional and chromatin genes disrupted in autism Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.Role of the axonal initial segment in psychiatric disorders: function, dysfunction, and intervention Incidence of Dravet Syndrome in a US Population.Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Neurological perspectives on voltage-gated sodium channels.The SCN1A gene variants and epileptic encephalopathies.Molecular biology and biophysical properties of ion channel gating pores.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Ion channel regulation by β-secretase BACE1 - enzymatic and non-enzymatic effects beyond Alzheimer's disease.Low-Mg(2+) treatment increases sensitivity of voltage-gated Na(+) channels to Ca(2+)/calmodulin-mediated modulation in cultured hippocampal neurons.Concept Modeling-based Drug Repositioning.Functional Modulation of Voltage-Gated Sodium Channels by a FGF14-Based Peptidomimetic.SCN3A deficiency associated with increased seizure susceptibility.Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.Src family tyrosine kinase inhibitors suppress Nav1.1 expression in cultured rat spiral ganglion neurons.Can the combination of hyperthermia, seizures and ion channel dysfunction cause fatal post-ictal cerebral edema in patients with SCN1A mutations?

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P2860

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

http://www.wikidata.org/entity/Q35375026

description

2011 nî lūn-bûn

@nan

2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի օգոստոսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

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Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

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type

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Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

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Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

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Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

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Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

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P356

J.1460-9568.2011.07826.X

P1433

European Journal of Neuroscience

P1476

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

@en

P2093

Alfred L George

http://www.w3.org/2001/XMLSchema#string

Bobby P C Koeleman

http://www.w3.org/2001/XMLSchema#string

Dick Lindhout

http://www.w3.org/2001/XMLSchema#string

Hans Stroink

http://www.w3.org/2001/XMLSchema#string

Joost H G Das

http://www.w3.org/2001/XMLSchema#string

Kristopher M Kahlig

http://www.w3.org/2001/XMLSchema#string

Linda Volkers

http://www.w3.org/2001/XMLSchema#string

Marjan J A van Kempen

http://www.w3.org/2001/XMLSchema#string

Martin B Rook

http://www.w3.org/2001/XMLSchema#string

Nienke E Verbeek

http://www.w3.org/2001/XMLSchema#string

P2860

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

Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes

Radicals r'aging.

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

Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domains

Noninactivating voltage-gated sodium channels in 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

P304

1268-1275

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10.1111/J.1460-9568.2011.07826.X

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