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Article

Insights into ANKRD11-related epilepsy from 163 people.

Epilepsia - 1 Sept 2026

Su Song, Ma Jian, Zhang Qi, Hu Wandong, Ren Ying, Zhang Wenchao, Zhang Hongwei

Abstract excerpt

OBJECTIVE: Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy-related phenotypes and genotype-phenotype correlations in ANKRD11 variant carriers remains limited. We aimed to integrate a single-center cohort with previously reported cases to delineate the...

Read the complete abstract on PubMed

Topics

Humans
Repressor Proteins
Female
Genetic Association Studies
Epilepsy
Male
Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child

Phenotype

Infant

Exome Sequencing

Intellectual Disability

Bone Diseases, Developmental

Abnormalities, Multiple

Adolescent

Tooth Abnormalities

Facies

Source

Open in PubMed Open full text

Identifiers

PMID: 42322264
DOI: 10.1002/epi.70351
PMCID: PMC13592500

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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