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Biallelic ADGRV1 variants are associated with Rolandic epilepsy

Zhigang Liu1,2, Xingguang Ye1, Jieyan Zhang1

  • 1Department of Pediatrics, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, 11 Renminxi Road 11, Foshan, 528000, Guangdong, China.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|June 23, 2021
PubMed
Summary

Genetic variants in ADGRV1, GRIN2B, and RyR2 are linked to Rolandic epilepsy (RE) and atypical RE (ARE). These findings highlight the role of neuronal calcium homeostasis defects in the development of these common childhood epilepsy conditions.

Keywords:
ADGRV1Calcium homeostasisGRIN2BRolandic epilepsyRyR2Variants

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