Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1612-1619

  Bahi Buisson, Nadia ^a,b   Villeneuve, Nathalie ^c   Caietta, Emilie ^c   Jacquette, Aurélia ^d   Maurey, Helene ^e   Matthijs, Gert ^f   Van Esch, Hilde ^f   Delahaye, Andrée ^g   Moncla, Anne ^c   Milh, Mathieu ^c   Zufferey, Flore ^h   Diebold, Bertrand ⁱ   Bienvenu, Thierry ^a,i  

^a INSTITUT COCHIN   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c TIMONE HOSPITAL   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e BICÊTRE HOSPITAL   (France)

^f Hôpital Jean Verdier University Hospital UFR SMBH Paris 13 University ^*  (Belgium)

^g HÔPITAL JEAN VERDIER   (France)

^h LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

ⁱ université Paris Cité   (France)

Author keywords

CDKL5; Epileptic encephalopathy; Rett syndrome

Indexed keywords

ANTICONVULSIVE AGENT;

ADULT; ARTICLE; BINDING SITE; CARBOXY TERMINAL SEQUENCE; CDKL5 GENE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; INTRON; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MICROCEPHALY; MISSENSE MUTATION; MOTOR DEVELOPMENT; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN MOTIF; RETROSPECTIVE STUDY; SCHOOL CHILD; STEREOTYPY; X CHROMOSOME INACTIVATION;

ADENOSINE TRIPHOSPHATE; BINDING SITES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MUTATION; PHENOTYPE; PROTEIN INTERACTION DOMAINS AND MOTIFS; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SPASMS, INFANTILE; X CHROMOSOME INACTIVATION;

EID: 84862656621     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35401     Document Type: Article

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