ADGRL1 variants: From developmental and epileptic encephalopathy to genetic epilepsy with febrile seizures plus.

Wenting LeiYurong XiongYongyuan ShiLingling SongJing XiangFan YangXi WuHuifeng WangMao-Qiang Tian

Published in: Developmental medicine and child neurology (2024)

We found one new missense variant of ADGRL1 in one family with GEFS+. ADGRL1 may be a potential candidate or susceptibility gene for epilepsy. ADGRL1-associated epilepsy ranged from benign GEFS+ to severe epileptic encephalopathy; the genotypes and variant locations may help explain the phenotypic heterogeneity of patients with the ADGRL1 variant.

Keyphrases

copy number
early onset
genome wide
temporal lobe epilepsy
intellectual disability
gene expression
dna methylation
risk assessment
genome wide identification
human health