title: Epilepsy. Genetics of early-onset epilepsy with encephalopathy.
abstract: Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?
authors.affiliation: Centre de Reference Epilepsies Rares, Department of Neuropediatrics, INSERM U663, Université Paris Descartes, Hôpital Necker, 149 Rue de Sèvres, Paris, France. rimanabbout@yahoo.com
authors.forename: Rima
authors.initials: R
authors.lastname: Nabbout
authors.forename: Olivier
authors.initials: O
authors.lastname: Dulac
mesh_terms: D003072:Cognition Disorders / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D020936:Epilepsy, Benign Neonatal / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D051658:KCNQ2 Potassium Channel / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D051658:KCNQ2 Potassium Channel