A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies-Reference-Cited by-同舟云学术

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

Published:2019-05 Issue: Volume:125 Page:31-44
ISSN:0969-9961
Container-title:Neurobiology of Disease
language:en
Short-container-title:Neurobiology of Disease

Author:

Salgueiro-Pereira Ana Rita,Duprat Fabrice,Pousinha Paula A.,Loucif Alexandre,Douchamps Vincent,Regondi Cristina,Ayrault Marion^ORCID,Eugie Martine,Stunault Marion I.,Escayg Andrew,Goutagny Romain,Gnatkovsky Vadym,Frassoni Carolina,Marie Hélène,Bethus Ingrid,Mantegazza Massimo^ORCID

Funder

Ion Channel Science and Therapeutics

Publisher

Elsevier BV

Subject

Neurology

Reference67 articles.

1. The impact of genetic and experimental studies on classification and therapy of the epilepsies;Avanzini;Neurosci. Lett.,2018

2. Pharmacogenomics in epilepsy;Balestrini;Neurosci. Lett.,2018

3. Febrile seizures: an appropriate-aged model suitable for long-term studies;Baram;Brain Res. Dev. Brain Res.,1997

4. Spatial cognition following early-life seizures in rats: performance deficits are dependent on task demands;Barry;Epilepsy Behav. EB,2016

5. Focal Scn1a knockdown induces cognitive impairment without seizures;Bender;Neurobiol. Dis.,2013

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