Early onset seizures and Rett-like features associated with mutations in CDKL5
Early onset seizures and Rett-like features associated with mutations in CDKL5
About this item
Full title
Author / Creator
Evans, Julie C , Archer, Hayley L , Colley, James P , Ravn, Kirstine , Nielsen, Jytte Bieber , Kerr, Alison , Williams, Elizabeth , Christodoulou, John , Gécz, Jozef , Jardine, Philip E , Wright, Michael J , Pilz, Daniela T , Lazarou, Lazarus , Cooper, David N , Sampson, Julian R , Butler, Rachel , Whatley, Sharon D and Clarke, Angus J
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
Mutations in the
CDKL5
gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with
CDKL5
mutations sometimes also show features similar to those seen in Rett Syndrome (RTT). We have screened the
CDKL5
gene in 94 patients with RTT or a RTT-lik...
Alternative Titles
Full title
Early onset seizures and Rett-like features associated with mutations in CDKL5
Authors, Artists and Contributors
Author / Creator
Archer, Hayley L
Colley, James P
Ravn, Kirstine
Nielsen, Jytte Bieber
Kerr, Alison
Williams, Elizabeth
Christodoulou, John
Gécz, Jozef
Jardine, Philip E
Wright, Michael J
Pilz, Daniela T
Lazarou, Lazarus
Cooper, David N
Sampson, Julian R
Butler, Rachel
Whatley, Sharon D
Clarke, Angus J
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_754895197
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_754895197
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201451
