Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. - Wikidata - awgldk - TriplyDB

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.

http://www.wikidata.org/entity/Q30611022

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Sudden unexpected death in epilepsy: Identifying risk and preventing mortality Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies Conditional Disabled-1 Deletion in Mice Alters Hippocampal Neurogenesis and Reduces Seizure Threshold.Mechanisms of sudden unexplained death in epilepsy Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.Abnormalities of serotonergic neurotransmission in animal models of SUDEP.An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior.Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice Effect of Seizures on the Developing Brain and Cognition.SCN8A encephalopathy: Research progress and prospects Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.Deletion of fibroblast growth factor 22 (FGF22) causes a depression-like phenotype in adult mice.2014 Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across The Lifespan Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder.Activity of NaV1.2 promotes neurodegeneration in an animal model of multiple sclerosis.Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy Remarkable alterations of Nav1.6 in reactive astrogliosis during epileptogenesis Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy.Role of Sodium Channels in Epilepsy.Precision medicine in genetic epilepsies: break of dawn?SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.Altered gene expression profile in a mouse model of SCN8A encephalopathy.Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Genetic Basis of Sudden Unexpected Death in Epilepsy.Models and detection of spontaneous recurrent seizures in laboratory rodents.Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy.Pro-excitatory alterations in sodium channel activity facilitate subiculum neuron hyperexcitability in temporal lobe epilepsy.Modulation of Abnormal Sodium Channel Currents in Heart and Brain: Hope for SUDEP Prevention and Seizure Reduction.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.Selective targeting of Scn8a prevents seizure development in a mouse model of mesial temporal lobe epilepsy.Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy

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P2860

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.

http://www.wikidata.org/entity/Q30611022

description

2014 nî lūn-bûn

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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.

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Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.

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type

label

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.

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Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.

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prefLabel

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.

@ast

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.

@en

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Human Molecular Genetics

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Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.

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Geoffrey G Murphy

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Jack M Parent

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Jacy L Wagnon

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Julie M Jones

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Matthew J Korn

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Michael F Hammer

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Miriam H Meisler

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Rachel Parent

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Taylor A Tarpey

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P2860

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

De novo mutations in epileptic encephalopathies

Sodium channel Na(v)1.6 is localized at nodes of ranvier, dendrites, and synapses

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b

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10.1093/HMG/DDU470

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