title: Generalized periodic epileptiform discharges in a child with Dravet syndrome.
abstract: Generalized periodic epileptiform discharges can occur in a variety of epileptic syndromes and herald impending seizures. Such discharges are also extremely rare in children. Cerebral visual impairment can be associated with generalized and partial onset seizures, particularly those involving the occipital lobe. The authors present a case of a 10-month-old boy whose electroencephalogram revealed generalized periodic epileptiform discharges following resolution of status epilepticus. Such discharges warranted further monitoring, during which he experienced 2 additional seizures. He also was discovered to have cerebral visual impairment, which slowly resolved following termination of seizure activity. The child was subsequently found to have a de novo mutation of the sodium channel, voltage-gated, type I, alpha subunit (SCN1A) gene consistent with Dravet syndrome.
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA. moseley.brian@mayo.edu
authors.forename: Brian D
authors.initials: BD
authors.lastname: Moseley
authors.forename: Elaine C
authors.initials: EC
authors.lastname: Wirrell
authors.forename: Katherine
authors.initials: K
authors.lastname: Nickels
mesh_terms: D004569:Electroencephalography / Q000379:methods; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004829:Epilepsy, Generalized / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D014786:Vision Disorders / Q000209:etiology / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels