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Article

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2010

Psoni Stavroula, Willems Patrick J, Kanavakis Emmanuel, Mavrou Ariadne, Frissyra Helen, Traeger-Synodinos Joanne, Sofokleous Christalena, Makrythanassis Periklis, Kitsiou-Tzeli Sophia

Abstract excerpt

Classic Rett Syndrome (RS) is a neurodevelopmental disorder due to mutations in the MECP2 gene in Xq28. Atypical RS with severe early-onset encephalopathy and therapy-resistant epilepsy can be due to mutations in the CDKL5 (Cyclin-Dependent Kinase-like 5) gene in Xp22. We here report a 14-year-old female with a RS-like clinical picture, and well-controlled seizures. MECP2 gene testing was negative, but subsequent...

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Source

Identifiers

PMID: 19428276
DOI: 10.1016/j.ejpn.2009.03.006

Genes

CDKL5
MECP2

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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