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Case Reports
. 2011 Jan;15(1):65-9.
doi: 10.1016/j.ejpn.2010.04.005. Epub 2010 May 20.

Epilepsy caused by CDKL5 mutations

Maija Castrén  1 , Eija Gaily, Carola Tengström, Jaana Lähdetie, Hayley Archer, Sirpa Ala-Mello
Affiliations
Case Reports

Epilepsy caused by CDKL5 mutations

Maija Castrén et al. Eur J Paediatr Neurol. 2011 Jan.

Abstract

Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been identified in female patients with early onset epileptic encephalopathy and severe mental retardation with a Rett-like phenotype. Subsequently CDKL5 mutations were shown to be associated with more diverse phenotypes including mild epilepsy and autism without epilepsy. Furthermore, CDKL5 mutations were found in patients with Angelman-like phenotype. The severity of epilepsy associated with CDKL5 mutations was recently shown to correlate with the type of CDKL5 mutations and epilepsy was identified to involve three distinct sequential stages. Here, we describe the phenotype of a severe form of neurodevelopmental disease in a female patient with a de novo nonsense mutation of the CDKL5 gene c.175C > T (p.R59X) affecting the catalytic domain of CDKL5 protein. Mutations in the CDKL5 gene are less common in males and can be associated with a genomic deletion as found in our male patient with a deletion of 0.3 Mb at Xp22.13 including the CDKL5 gene. We review phenotypes associated with CDKL5 mutations and examine putative relationships between the clinical epilepsy phenotype and the type of the mutation in the CDKL5 gene.

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