title: Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
authors.affiliation: Laboratoire de génétique moléculaire et d'histocompatibilité, CHRU Morvan, Brest, France.|INSERM U1078, Brest, France.
authors.forename: Sylvia
authors.initials: S
authors.lastname: Redon
authors.affiliation: INSERM U1078, Brest, France.|Etablissement Français du Sang, Brest, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Benech
authors.affiliation: Laboratoire de génétique moléculaire et d'histocompatibilité, CHRU Morvan, Brest, France.
authors.forename: Sacha
authors.initials: S
authors.lastname: Schutz
authors.affiliation: Laboratoire de génétique moléculaire et d'histocompatibilité, CHRU Morvan, Brest, France.
authors.forename: Aurore
authors.initials: A
authors.lastname: Despres
authors.affiliation: Laboratoire de génétique moléculaire et d'histocompatibilité, CHRU Morvan, Brest, France.|INSERM U1078, Brest, France.|Faculté de Médecine, UBO, Brest, France.
authors.forename: Paul
authors.initials: P
authors.lastname: Gueguen
authors.affiliation: Laboratoire de génétique moléculaire et d'histocompatibilité, CHRU Morvan, Brest, France.|INSERM U1078, Brest, France.
authors.forename: Pauline
authors.initials: P
authors.lastname: Le Berre
authors.affiliation: Laboratoire de génétique moléculaire et d'histocompatibilité, CHRU Morvan, Brest, France.|INSERM U1078, Brest, France.|Etablissement Français du Sang, Brest, France.|Faculté de Médecine, UBO, Brest, France.
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Marechal
authors.affiliation: Service de pédiatrie et de génétique médicale, CHRU Morvan, Brest, France.
authors.forename: Sylviane
authors.initials: S
authors.lastname: Peudenier
authors.affiliation: Service de radiologie et d'imagerie médicale, CHRU Morvan, Brest, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Meriot
authors.affiliation: Service de pédiatrie et de génétique médicale, CHRU Morvan, Brest, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Parent
authors.affiliation: Laboratoire de génétique moléculaire et d'histocompatibilité, CHRU Morvan, Brest, France.|INSERM U1078, Brest, France.|Etablissement Français du Sang, Brest, France.|Faculté de Médecine, UBO, Brest, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Ferec
mesh_terms: D000483:Alleles; D001921:Brain / Q000002:abnormalities; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D003062:Codon; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion; D012720:Severity of Illness Index
chemical_list: D002352:Carrier Proteins; D003062:Codon; C578284:WDR45 protein, human