Caregiver's perception of epilepsy treatment, quality of life and comorbidities in an international cohort of CDKL5 patients

Sam Amin*, A. Majumdar, A. A. Mallick, J. Patel, R. Scatchard, C. A. Partridge, A. Lux

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

20 Citations (Scopus)


OBJECTIVE: CDKL5 is a genetic condition associated with drug-resistant epilepsy and intellectual disability. There is limited information on its natural history. We investigated the natural history, complications, and the effectiveness of current treatment strategies.

METHODS: This study was conducted in conjunction with the CDKL5-UK Charity, with patients recruited from the USA and Europe. Online questionnaires were completed by parents/carers and included information relating to demographics, growth, development, epilepsy, comorbid conditions, and efficacy and side effects of antiepileptic treatments.

RESULTS: Thirty-nine of the 44 patients were female. Median age was five years (range five months to 31 years), and all had a history of epilepsy. All patients had developmental delay, with 4/21 able to run and 4/22 able to climb. Gastrointestinal problems were reported in 31/43. Cardiac arrhythmia was seen in 11/29. Over one-quarter of the patients had tried ten or more antiepileptic medications. Vigabatrin was reportedly the most effective AED (antiepileptic drug) in 12/23; clobazam (most effective in 6/14); sodium valproate (most effective in 5/27), and levetiracetam (most effective in 3/27). VNS (Vagal Nerve Stimulator) was reported to be effective in 9/12. One year after VNS insertion, 9/12 reported improved (QoL), and there were improvements in mood, school achievement and concentration in (9/11). The ketogenic diet was considered effective and to have improved QoL in (12/23).

CONCLUSION: Vigabatrin appears to be more effective than other AEDs. VNS and ketogenic diet are also relatively effective. Gastrointestinal and cardiovascular system complications are common. The results may help to guide management of epilepsy in CDKL5. It highlights a possible link between CDKL5 and potentially treatable life-threatening complications such as cardiac arrhythmia. More research in this area may help us develop a more systematic approach to treating these patients. HIPPOKRATIA 2017, 21(3): 130-135.

Original languageEnglish
Pages (from-to)130-135
Number of pages6
Issue number3
Publication statusPublished - 1 Jul 2017

Bibliographical note

Funding Information:
The questionnaire used in this study can be found in the link:

Publisher Copyright:
© 2017, Lithografia Antoniadis I - Psarras Th G.P.. All rights reserved.

Copyright 2019 Elsevier B.V., All rights reserved.


  • CDKL5
  • Epilepsy
  • Ketogenic diet
  • Natural history
  • Vagal nerve stimulator
  • Vigabatrin


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