title: CHD2 mutations in Lennox-Gastaut syndrome.
abstract: Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy with a heterogeneous etiology. In this study, we aimed to explore the role of CHD2 in LGS, as CHD2 mutations have been described recently in various epileptic encephalopathies. We have previously identified one patient with a large deletion affecting the CHD2 gene in a group of 22 patients with LGS or LGS-like epilepsy. In the remaining 17 patients without known etiology, Sanger sequencing revealed a de novo 1-bp duplication in the CHD2 gene in another patient. This mutation leads to a frameshift and, consequently, a premature stop codon 49bp downstream of the mutation. The patient had prominent myoclonic seizures and photosensitivity, thus, sharing phenotypic features with previously reported patients with CHD2-related epilepsy. In our original material of 22 patients with LGS features, we have now found two (9%) with mutations in the CHD2 gene. Our findings suggest that CHD2 mutations are important in the etiological spectrum of LGS.
authors.affiliation: National Centre for Rare Epilepsy-related Disorders, Oslo University Hospital, Oslo, Norway; National Centre for Epilepsy, SSE, Oslo University Hospital, Oslo, Norway. Electronic address: caroline.lund@ous-hf.no.
authors.forename: Caroline
authors.initials: C
authors.lastname: Lund
authors.affiliation: Department of Neurology and Clinical Neurophysiology, St. Olav's Hospital, Trondheim, Norway; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.
authors.forename: Eylert
authors.initials: E
authors.lastname: Brodtkorb
authors.affiliation: Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.
authors.forename: Ane-Marte
authors.initials: AM
authors.lastname: Øye
authors.affiliation: Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.
authors.forename: Oddveig
authors.initials: O
authors.lastname: Røsby
authors.affiliation: National Centre for Rare Epilepsy-related Disorders, Oslo University Hospital, Oslo, Norway; Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.
authors.forename: Kaja Kristine
authors.initials: KK
authors.lastname: Selmer
mesh_terms: D000328:Adult; D001921:Brain / Q000503:physiopathology; D004268:DNA-Binding Proteins / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D065768:Lennox Gastaut Syndrome / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation
chemical_list: C575189:CHD2 protein, human; D004268:DNA-Binding Proteins
keywords: CHD2; Epileptic encephalopathy; Lennox–Gastaut syndrome; Sanger sequencing