Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair

Abstract

PurposeDe novo truncating mutations of AHDC1 gene cause Xia-Gibbs Syndrome (XGS), characterized by developmental delay, hypotonia, speech disturbances, sleep apnea. Seizures have been reported, yet no studies have depicted the epilepsy characteristics and outcome. MethodsWe describe the clinical features of a pair of Caucasian monozygotic female twins affected by severe epilepsy and presenting the same de novo AHDC1 mutation detected by whole exome sequencing. ResultsThey were concordant with respect to seizure onset and type mimicking Lennox-Gastaut syndrome as well as initial EEG features, but differed in terms of epilepsy prognosis (complete seizure freedom on valproate/lamotrigine versus ongoing daily refractory seizures despite multiple drug combinations). ConclusionOur findings suggest that patients with Xia-Gibbs Syndrome may exhibit Lennox-Gastaut-like features and that even the same AHDC1 mutation can be poorly predictive of epilepsy prognosis.