The three stages of epilepsy in patients with CDKL5 mutations

@article{BahiBuisson2008TheTS,
  title={The three stages of epilepsy in patients with CDKL5 mutations},
  author={N. Bahi-Buisson and A. Kaminska and N. Boddaert and M. Rio and A. Afenjar and M. G{\'e}rard and F. Giuliano and J. Motte and D. Heron and Marie Ange N'guyen Morel and P. Plouin and C. Richelme and V. des Portes and O. Dulac and C. Philippe and C. Chiron and R. Nabbout and T. Bienvenu},
  journal={Epilepsia},
  year={2008},
  volume={49}
}
Mutations in the X‐linked cyclin‐dependent kinase‐like 5 (CDKL5) gene are responsible for a severe encephalopathy with early epilepsy. So far, the electroclinical phenotype remains largely unknown and no clear genotype–phenotype correlations have been established. 

Paper Mentions

Observational Clinical Trial
The purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), CDKL5, FOXG1, and individuals with MECP2… Expand
ConditionsCDKL5 Disorder, FOXG1 Syndrome, MECP2 Duplication dIsorder, (+1 more)
Observational Clinical Trial
The overarching purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), RTT-related disorders including… Expand
ConditionsCDKL5, FOXG1 Disorders, MECP2 Duplication, (+1 more)
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The observation and review of the literature suggest that a broader polymorphic electroclinical pattern with both generalized and focal seizures may occur in patients with CDKL5 mutations. Expand
Myoclonic encephalopathy in the CDKL5 gene mutation
TLDR
Patients with the CDKL5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern. Expand
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
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TLDR
A model in which CDKL5 phosphorylation is required for its entrance into the nucleus whereas a portion of the COOH-terminal domain is responsible for a stable residency in this cellular compartment probably through protein-protein interactions is proposed. Expand
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
TLDR
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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
TLDR
CDKL5 is confirmed as another locus associated with epilepsy and X-linked mental retardation and suggested that mutations in CDKL 5 can lead to a clinical phenotype that overlaps RTT, however, it remains to be determined whether CDkL5 mutations are more prevalent in specific clinical subgroups of RTT or in other clinical presentations. Expand
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