title: CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.
authors.forename: C
authors.initials: C
authors.lastname: Córdova-Fletes
authors.forename: N
authors.initials: N
authors.lastname: Rademacher
authors.forename: I
authors.initials: I
authors.lastname: Müller
authors.forename: J N
authors.initials: JN
authors.lastname: Mundo-Ayala
authors.forename: E A
authors.initials: EA
authors.lastname: Morales-Jeanhs
authors.forename: J E
authors.initials: JE
authors.lastname: García-Ortiz
authors.forename: A
authors.initials: A
authors.lastname: León-Gil
authors.forename: H
authors.initials: H
authors.lastname: Rivera
authors.forename: M G
authors.initials: MG
authors.lastname: Domínguez
authors.forename: V M
authors.initials: VM
authors.lastname: Kalscheuer
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D007223:Infant; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics*; D013577:Syndrome
chemical_list: D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human