Two cases of epilepsy with CHD2 mutation

Abstract

Background. CHD2 gene mutations have been described as phenotypically related to developmental early-onset (<4 years) epileptic encephalopathy with multiple types of generalized seizures (myoclonia, myoclonic absences, drop attacks), photosensitivity, febrile seizures, intellectual disability. Aim. To report two female cases of drug resistant epilepsy related to heterozygous de novo mutations in the CDH2 gene. Case Reports. Cse 1. Seizures started at age 11 as atonia, later followed by generalized tonic-clonic convulsion, series of daily myoclonia (often with right head deviation) and absences (up to obtundation status), drop attacks. Prolonged generalized spike-polyspike (SPS) discharges, photosensitivity were found on electrocephalograms (EEG). Concomitant disorders were intellectual disability, chronic purulent infections, recurrent coxarthritis; immunodeficiency, obesity, autoimmune thyroiditis. Antiseizure medications (ASM) as well as ketogenic diet and vagus nerve stimulation showed no effect. Non-sense pathogenic variant c.3782G>A, p.Trp1261Ter in CHD2 gene was found. […].