Novel Missense <i>CACNA1G</i> Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

Novel Missense <i>CACNA1G</i> Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

The <i>CACNA1G</i> gene encodes the low-voltage-activated Ca<sub>v</sub>3.1 channel, which is expressed in various areas of the CNS, including the cerebellum. We studied two missense <i>CACNA1G</i> variants, p.L208P and p.L909F, and evaluated the relationships bet...

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Bibliographic Details
Main Authors: Géza Berecki, Katherine L. Helbig, Tyson L. Ware, Bronwyn Grinton, Cara M. Skraban, Eric D. Marsh, Samuel F. Berkovic, Steven Petrou
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:International Journal of Molecular Sciences
Subjects:
<i>CACNA1G</i> mutation
voltage-dependent T-type calcium channel
developmental and epileptic encephalopathy
deep cerebellar nuclei
gain of function
loss of function
Online Access:https://www.mdpi.com/1422-0067/21/17/6333

Internet

https://www.mdpi.com/1422-0067/21/17/6333

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