CDKL5 epileptic encephalopathy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

CDKL5 epileptic encephalopathy. This is caused by mutations in the CDKL5 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the CDKL5 gene

Developmental features

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Neurological features

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Systemic features

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Stages of epilepsy

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Differential diagnosis

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Treatment

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Acronym

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References

  1. Fehr S, Wong K, Chin R, et al. Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder. Neurology 2016; 87:2206-2213. 
  2. Lim Z, Wong K, Olson HE, Bergin AM, Downs J, Leonard H. Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients. Epilepsia 2017; 58:1415-1422.
  3. Archer HL, Evans J, Edwards S, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 2006; 43:729-734. 
  4. Mangatt M, Wong K, Anderson B, et al. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet J Rare Dis 2016; 11:39. 
  5. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008; 131:2647-2661.
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