title: KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.
abstract: Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed KCNQ2 encephalopathy.(3,4) This is a rare condition and all patients reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording. We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies.
authors.affiliation: From the University of California (A.L.N., J.E.S., M.R.C.), San Francisco; Central Hospital of Bolzano (M.A.), Italy; Kaiser Permanente of Northern California (A.J.L.); University of Genoa (P.S.), "G. Gaslini" Institute, Italy; and Paris-Descartes University, Hôpital Necker-Enfants Malades (R.N.), Paris, France.
authors.forename: Adam L
authors.initials: AL
authors.lastname: Numis
authors.forename: Marco
authors.initials: M
authors.lastname: Angriman
authors.forename: Joseph E
authors.initials: JE
authors.lastname: Sullivan
authors.forename: Ann J
authors.initials: AJ
authors.lastname: Lewis
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Rima
authors.initials: R
authors.lastname: Nabbout
authors.forename: Maria R
authors.initials: MR
authors.lastname: Cilio
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use*; D004569:Electroencephalography; D020936:Epilepsy, Benign Neonatal / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D005865:Gestational Age; D006801:Humans; D007223:Infant; D051658:KCNQ2 Potassium Channel / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D019957:Motor Skills Disorders / Q000209:etiology / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D000927:Anticonvulsants; D051658:KCNQ2 Potassium Channel