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Article

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

European journal of human genetics : EJHG - 1 Jul 2015

Szafranski Przemyslaw, Golla Sailaja, Jin Weihong, Fang Ping, Hixson Patricia, Matalon Reuben, Kinney Daniel, Bock Hans-Georg, Craigen William, Smith Janice L, Bi Weimin, Patel Ankita, Wai Cheung Sau, Bacino Carlos A, Stankiewicz Paweł

Abstract excerpt

Point mutations and genomic deletions of the CDKL5 (STK9) gene on chromosome Xp22 have been reported in patients with severe neurodevelopmental abnormalities, including Rett-like disorders. To date, only larger-sized (8-21 Mb) duplications harboring CDKL5 have been described. We report seven females and four males from seven unrelated families with CDKL5 duplications 540-935 kb in size. Three families of...

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Source

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Identifiers

PMID: 25315662
DOI: 10.1038/ejhg.2014.217
PMCID: PMC4463505

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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