Epilepsy in the X-linked Syndromic Intellectual Disability, Christianson Type Resulted from c.584+1 G>T SLC9A6 Variant |Biomedgrid

Christianson syndrome (CS) is an X-linked intellectual disorder caused by mutations in the SLC9A6 gene (Xq26 locus, XLD inheritance). It is characterized by specific facial and behavioral features, postnatal microcephaly, absent speech, truncal ataxia and epilepsy. We present a history of a 2, 5-year-old boy diagnosed with refractory epilepsy with polymorphic seizures (tonic-clonic, myoclonic, atypical absence and atonic seizures), diagnosed at the age of 15 months. The causative genetic variant (c.584+1 G>T) has been reported to date only in one family, thus with our paper we aimed to delineate the genotype-phenotype correlation in CS.