A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 2, 2009, Pages 232-236

  Sartori, Stefano ^a   Di Rosa, Gabriella ^b   Polli, Roberta ^a   Bettella, Elisa ^a   Tricomi, Giovanni ^b   Tortorella, Gaetano ^b   Murgia, Alessandra ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

Author keywords

47,XXY karyotype; CDKL5; Early onset epileptic encephalopathy; Klinefelter syndrome; Mutation; Rett syndrome variant; X chromosome inactivation

Indexed keywords

CYCLIN DEPENDENT KINASE 5;

ARTICLE; CASE REPORT; CELLULAR DISTRIBUTION; CHILD; CHROMOSOME ANALYSIS; CONTROLLED STUDY; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE 47,XXY; MALE; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SEIZURE; X CHROMOSOME INACTIVATION;

AGE OF ONSET; DEVELOPMENTAL DISABILITIES; FOLLOW-UP STUDIES; HUMANS; INFANT; MALE; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SEIZURES; SEX CHROMOSOME DISORDERS; X CHROMOSOME INACTIVATION;

EID: 59849130084     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32606     Document Type: Article

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