Insights into ANKRD11-related epilepsy from 163 people

Heterozygous *ANKRD11* variants causing epilepsy with genotype-phenotype correlations by molecular domain

An integrated cohort of 163 individuals with ANKRD11 variants and epilepsy defines the phenotypic spectrum of epilepsy in KBG syndrome. Seizures appear at a median age of 4 years, with equal representation of focal and generalized epilepsies and absences in 22.8% of cases. Truncating variants predominate (60.1%) and missense variants cluster in the RD2 repression domain, associated with later onset and better seizure control. 36.8% present drug-resistant epilepsy.

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The largest published series on ANKRD11-related epilepsy provides genotype-phenotype data usable in genetic counseling. The correlation between RD2 domain localization and milder epileptic phenotype is immediately clinically useful. Drug-resistant epilepsy in over a third of cases underscores the potential severity of this phenotype.