Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

The CACNA1G gene encodes the low-voltage-activated Ca(v)3.1 channel, which is expressed in various areas of the CNS, including the cerebellum. We studied two missense CACNA1G variants, p.L208P and p.L909F, and evaluated the relationships between the severity of Ca(v)3.1 dysfunction and the clinical...

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Detalles Bibliográficos
Autores principales: Berecki, Géza, Helbig, Katherine L., Ware, Tyson L., Grinton, Bronwyn, Skraban, Cara M., Marsh, Eric D., Berkovic, Samuel F., Petrou, Steven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503748/
https://www.ncbi.nlm.nih.gov/pubmed/32878331
http://dx.doi.org/10.3390/ijms21176333

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