CDKL5 epileptic encephalopathy

Evidence-based neurology checklist on cdkl5 epileptic encephalopathy: Genetics This is caused by mutations in the CDKL5 gene Developmental features Neurological features Systemic features Stages of epilepsy Differential diagnosis Treatment Acronym

Genetics

  • This is caused by mutations in the CDKL5 gene

Developmental features

Neurological features

Systemic features

Stages of epilepsy

Differential diagnosis

Treatment

Acronym

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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