Journal article

Novel MissenseCACNA1GMutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

Geza Berecki, Katherine L Helbig, Tyson L Ware, Bronwyn Grinton, Cara M Skraban, Eric D Marsh, Samuel F Berkovic, Steven Petrou

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | MDPI | Published : 2020

Abstract

The CACNA1G gene encodes the low-voltage-activated Cav3.1 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 Cav3.1 dysfunction and the clinical phenotype. The presentation was of a developmental and epileptic encephalopathy without evident cerebellar atrophy. Both patients exhibited axial hypotonia, developmental delay, and severe to profound cognitive impairment. The patient with the L909F mutation had initially refractory seizures and cerebellar ataxia, whereas the L208P patient had seizures only transiently but was overall more severely af..

View full abstract