Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders

Twin Research and Human Genetics

Volumn 13, Issue 2, 2010, Pages 168-178

  White, Rose ^a,b   Ho, Gladys ^a,b   Schmidt, Swetlana ^a,i   Scheffer, Ingrid E ^c   Fischer, Alexandra ^c   Yendle, Simone C ^c   Bienvenu, Thierry ^d   Nectoux, Juliette ^d   Ellaway, Carolyn J ^a,b   Darmanian, Artur ^a   Tong, XingZhang ^a   Cloosterman, Desiree ^a   Bennetts, Bruce ^a,b   Kalra, Veena ^e   Fullston, Tod ^f,g   Gecz, Jozef ^f,g   Cox, Timothy C ^h   Christodoulou, John ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^f WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^g UNIVERSITY OF ADELAIDE   (Australia)

^h UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF APPLIED SCIENCES   (Germany)

Author keywords

CDKL5; Epileptic encephalopathy; Infantile spasms; Intellectual disability; Mutation; Rett syndrome

Indexed keywords

CYCLIN DEPENDENT KINASE 5;

AICARDI SYNDROME; ARTICLE; AUTISM; CHILD; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTELLECTUAL IMPAIRMENT; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; SCREENING; WEST SYNDROME; X LINKED MENTAL RETARDATION;

AMINO ACID SEQUENCE; COGNITION DISORDERS; COHORT STUDIES; CYCLIN-DEPENDENT KINASE 5; FEMALE; GENETIC TESTING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; RETT SYNDROME; SEIZURES;

EID: 77953785018     PISSN: 18324274     EISSN: None     Source Type: Journal    
DOI: 10.1375/twin.13.2.168     Document Type: Article

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