title: Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.
authors.affiliation: Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Masliah-Plachon
authors.forename: Stéphane
authors.initials: S
authors.lastname: Auvin
authors.forename: Juliette
authors.initials: J
authors.lastname: Nectoux
authors.forename: Yann
authors.initials: Y
authors.lastname: Fichou
authors.forename: Jamel
authors.initials: J
authors.lastname: Chelly
authors.forename: Thierry
authors.initials: T
authors.lastname: Bienvenu
mesh_terms: D001927:Brain Diseases / Q000150:complications*; D004569:Electroencephalography; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics*
chemical_list: D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human