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

Author:

Lei Wenting12,Xiong Yurong12,Shi Yongyuan12,Song Lingling12,Xiang Jing12,Yang Fan3,Wu Xi12,Wang Huifeng12,Tian Maoqiang12ORCID

Affiliation:

1. Department of Pediatrics Affiliated Hospital of Zunyi Medical University Zunyi China

2. Department of Pediatrics Guizhou Children's Hospital Zunyi China

3. Cipher Gene LLC Beijing China

Abstract

AbstractAimTo expand the phenotypic spectrum of ADGRL1 and explore the correlation between epilepsy and the ADGRL1 genotype.MethodWe performed whole‐exome sequencing in a cohort of 115 families (including 195 males and 150 females) with familial febrile seizure or epilepsy with unexplained aetiology. The damaging effects of variants was predicted using protein modelling and multiple in silico tools. All reported patients with ADGRL1 pathogenic variants were analysed.ResultsOne new ADGRL1 variant (p.Pro753Leu) was identified in one family with genetic epilepsy with febrile seizures. Further analysis of 12 ADGRL1 variants in 16 patients revealed that six patients had epilepsy. Epilepsy types ranged from early‐onset epileptic encephalopathy to genetic epilepsy with febrile seizures plus (GEFS+). All four variants associated with epilepsy were located in the non‐helix or sheet region of ADGRL1. Three of the four epilepsy‐associated variants were missense variants. Thus, all three variants located in the G‐protein‐coupled receptor autoproteolytic‐inducing domain exhibited epilepsy.InterpretationWe 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.

Publisher

Wiley

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