Blog

The AHDC1 (AT-hook DNA binding motif containing 1, RefSeq number NM_001029882) gene is localized on locus 1p36.11-p35.3 and seems to play a role in DNA repair [1]. De novo truncating mutations of AHDC1 cause Xia-Gibbs syndrome (XGS), whose phenotypical spectrum include developmental delay, hypotonia and speech disturbances, with considerable phenotypic variability [1]. Although seizures have been frequently reported, the epilepsy phenotype is poorly understood.