title: [Early-onset epileptic encephalopathy caused by CDKL5 mutation].
abstract: Two girls suffering from early-onset epileptic encephalopathy are described. Both girls had changes involving the gene CDKL5. They both had seizures in the first weeks of life and normal EEG interictally. Both developed infantile spasms and severe developmental defect. The epilepsy was difficult to treat.
authors.affiliation: Epilepsihotellet, Dianalund, Kolonivej 1, 4293 Dianalund. hhjl@filadelfia.dk.
authors.forename: Helle
authors.initials: H
authors.lastname: Hjalmgrim
authors.forename: Lars Kjærsgaard
authors.initials: LK
authors.lastname: Hansen
authors.forename: Lilian Bomme
authors.initials: LB
authors.lastname: Ousager
authors.forename: Rikke Steensbjerre
authors.initials: RS
authors.lastname: Møller
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D000073376:Epileptic Syndromes; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D015518:Rett Syndrome / Q000175:diagnosis / Q000178:diet therapy / Q000188:drug therapy / Q000235:genetics*; D013036:Spasms, Infantile / Q000175:diagnosis / Q000178:diet therapy / Q000188:drug therapy / Q000235:genetics*
chemical_list: D000927:Anticonvulsants; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human