Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

OBJECTIVE: To identify the causative gene in a large unsolved family with genetic epilepsy with febrile seizures plus (GEFS+), we sequenced the genomes of family members, and then determined the contribution of the identified gene to the pathogenicity of epilepsies by examining sequencing data from...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Neurology
Auteurs principaux: Heron, Sarah E., Regan, Brigid M., Harris, Rebekah V., Gardner, Alison E., Coleman, Matthew J., Bennett, Mark F., Grinton, Bronwyn E., Helbig, Katherine L., Sperling, Michael R., Haut, Sheryl, Geller, Eric B., Widdess-Walsh, Peter, Pelekanos, James T., Bahlo, Melanie, Petrovski, Slavé, Heinzen, Erin L., Hildebrand, Michael S., Corbett, Mark A., Scheffer, Ingrid E., Gécz, Jozef, Berkovic, Samuel F.
Format: Artigo
Langue:Inglês
Publié: Lippincott Williams & Wilkins 2021
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8166436/
https://ncbi.nlm.nih.gov/pubmed/34038384
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000011855
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires