A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies.

Animals Epilepsy / genetics Gene Knock-In Techniques Hippocampus / pathology Mice Mutation NAV1.1 Voltage-Gated Sodium Channel / genetics Phenotype Seizures / genetics
Autism Cognition Dravet syndrome Epileptogenesis GEFS+ Precision medicine Remodeling Seizures

Journal

Neurobiology of disease
ISSN: 1095-953X
Titre abrégé: Neurobiol Dis
Pays: United States
ID NLM: 9500169

Informations de publication

Date de publication:
05 2019
Historique:
received: 25 10 2018
revised: 14 12 2018
accepted: 14 01 2019
pubmed: 20 1 2019
medline: 18 12 2019
entrez: 20 1 2019
Statut: ppublish

Résumé

SCN1A (Na

Identifiants

DOI: 10.1016/j.nbd.2019.01.006 PMID: 30659983
pubmed: 30659983
pii: S0969-9961(19)30012-9
doi: 10.1016/j.nbd.2019.01.006
pii:
doi:

Substances chimiques

NAV1.1 Voltage-Gated Sodium Channel 0
Scn1a protein, mouse 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

31-44

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

Auteurs

Ana Rita Salgueiro-Pereira (AR)

Université Côte d'Azur (UCA), CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), Team Physiopathology of Neuronal Circuits and Behavior, France.

Fabrice Duprat (F)

Université Côte d'Azur (UCA), INSERM, CNRS UMR 7275, Institute of Molecular and Cellular Pharmacology (IPMC), Team Pathophysiology of Voltage-Gated Na(+) channels and of Neuronal Excitability, France.

Paula A Pousinha (PA)

Université Côte d'Azur (UCA), CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), Team Physiopathology of Neuronal Circuits and Behavior, France.

Alexandre Loucif (A)

Université Côte d'Azur (UCA), INSERM, CNRS UMR 7275, Institute of Molecular and Cellular Pharmacology (IPMC), Team Pathophysiology of Voltage-Gated Na(+) channels and of Neuronal Excitability, France.

Vincent Douchamps (V)

Université de Strasbourg, CNRS, LNCA, Strasbourg, France.

Cristina Regondi (C)

U.O. Clinical and Experimental Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy.

Marion Ayrault (M)

Université Côte d'Azur (UCA), INSERM, CNRS UMR 7275, Institute of Molecular and Cellular Pharmacology (IPMC), Team Pathophysiology of Voltage-Gated Na(+) channels and of Neuronal Excitability, France.

Martine Eugie (M)

Université Côte d'Azur (UCA), CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), Team Physiopathology of Neuronal Circuits and Behavior, France.

Marion I Stunault (MI)

Université Côte d'Azur (UCA), CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), Team Physiopathology of Neuronal Circuits and Behavior, France.

Andrew Escayg (A)

Department of Human Genetics, Emory University, Atlanta, GA, USA.

Romain Goutagny (R)

Université de Strasbourg, CNRS, LNCA, Strasbourg, France.

Vadym Gnatkovsky (V)

U.O. Clinical and Experimental Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy.

Carolina Frassoni (C)

U.O. Clinical and Experimental Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy.

Hélène Marie (H)

Université Côte d'Azur (UCA), CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), Team Physiopathology of Neuronal Circuits and Behavior, France.

Ingrid Bethus (I)

Université Côte d'Azur (UCA), CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), Team Physiopathology of Neuronal Circuits and Behavior, France. Electronic address: bethus@ipmc.cnrs.fr.

Massimo Mantegazza (M)

Université Côte d'Azur (UCA), INSERM, CNRS UMR 7275, Institute of Molecular and Cellular Pharmacology (IPMC), Team Pathophysiology of Voltage-Gated Na(+) channels and of Neuronal Excitability, France. Electronic address: mantegazza@ipmc.cnrs.fr.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › A two-hit story: Seizures and genetic mutation...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › A two-hit story: Seizures and genetic mutation...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Ciblage de gène › Techniques de knock-in de gènes › A two-hit story: Seizures and genetic mutation...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Prosencéphale › Télencéphale › Cerveau › Cortex cérébral › Hippocampe › A two-hit story: Seizures and genetic mutation...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › A two-hit story: Seizures and genetic mutation...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A two-hit story: Seizures and genetic mutation...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Canaux sodiques voltage-dépendants › Canal sodique voltage-dépendant NAV1.1 › A two-hit story: Seizures and genetic mutation...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › A two-hit story: Seizures and genetic mutation...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Crises épileptiques › A two-hit story: Seizures and genetic mutation...