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...

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發表在:Neurology
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: Lippincott Williams & Wilkins 2021
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在線閱讀: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
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