Journal article

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Rhys H Thomas, Lin Mei Zhang, Gemma L Carvill, John S Archer, Sinead B Heavin, Simone A Mandelstam, Dana Craiu, Samuel F Berkovic, Deepak S Gill, Heather C Mefford, Ingrid E Scheffer



OBJECTIVE: To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2. METHODS: We analyzed the medical history, MRI, and video-EEG recordings of 9 individuals with de novo CHD2 mutations and one with a de novo 15q26 deletion encompassing CHD2. RESULTS: Seizures began at a mean of 26 months (12-42) with myoclonic seizures in all 10 cases. Seven exhibited exquisite clinical photosensitivity; 6 self-induced with the television. Absence seizures occurred in 9 patients including typical (4), atypical (2), and absence seizures with eyelid myoclonias (4). Generalized tonic-clonic seizures oc..

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