Biallelic ADGRV1 variants are associated with Rolandic epilepsy

ConclusionsThe results from the present study suggest that the genesADGRV1,GRIN2B, andRyR2 are associated with RE/ARE. These data link defects in neuronal intracellular calcium homeostasis to RE/ARE pathogenesis implicating that these defects plays an important role in the development of these conditions.

Source: Neurological Sciences - June 23, 2021 Category: Neurology Source Type: research