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Article

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

Developmental medicine and child neurology - 1 Jan 2025

Lei Wenting, Xiong Yurong, Shi Yongyuan, Song Lingling, Xiang Jing, Yang Fan, Wu Xi, Wang Huifeng, Tian Maoqiang

Abstract excerpt

AIM: To expand the phenotypic spectrum of ADGRL1 and explore the correlation between epilepsy and the ADGRL1 genotype. METHOD: We 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...

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Share to Epilepsy
Share to Epilepsy, Generalized

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Infant

Share to Mutation, Missense

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Share to Receptors, G-Protein-Coupled

Share to Seizures, Febrile

Source

Identifiers

PMID: 38927006
DOI: 10.1111/dmcn.16005

Genes

ADGRL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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