Müller, A; Helbig, I; Jansen, C; Bast, T; Guerrini, R; Jähn, J; Muhle, H; Auvin, S; Korenke, G C; Philip, S; Keimer, R; Striano, P; Wolf, N I; Püst, B; Thiels, Ch; Fogarasi, A; Waltz, S; Kurlemann, G; Kovacevic-Preradovic, T; Ceulemans, B; ... (2016). Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy. European journal of paediatric neurology, 20(1), pp. 147-151. Elsevier 10.1016/j.ejpn.2015.09.001
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OBJECTIVE
Mutations in the CDKL5 gene cause an early-onset epileptic encephalopathy. To date, little is known about effective antiepileptic treatment in this disorder.
METHOD
Accordingly, the aim of this retrospective study was to explore the role of different antiepileptic drugs (AEDs) and the ketogenic diet (KD) in the treatment of this rare genetic disorder. We evaluated the efficacy in 39 patients with CDKL5 mutations at 3, 6 and 12 months after the introduction of each treatment. One patient was lost to follow-up after 6 and 12 months.
RESULTS
The responder rate (>50% reduction in seizure frequency) to at least one AED or KD was 69% (27/39) after 3 months, 45% (17/38) after 6 months and 24% (9/38) after 12 months. The highest rate of seizure reduction after 3 months was reported for FBM (3/3), VGB (8/25), CLB (4/17), VPA (7/34), steroids (5/26), LTG (5/23) and ZNS (2/11). Twelve patients (31%) experienced a seizure aggravation to at least one AED. Most patients showed some but only initial response to various AEDs with different modes of actions.
SIGNIFICANCE
Considering both age-related and spontaneous fluctuation in seizure frequency and the unknown impact of many AEDs or KD on cognition, our data may help defining realistic treatment goals and avoiding overtreatment in patients with CDKL5 mutations. There is a strong need to develop new treatment strategies for patients with this rare mutation.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology |
UniBE Contributor: |
Bürki, Sarah Barbara |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1090-3798 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Stefanie Hetzenecker |
Date Deposited: |
04 Oct 2016 07:59 |
Last Modified: |
05 Dec 2022 14:59 |
Publisher DOI: |
10.1016/j.ejpn.2015.09.001 |
PubMed ID: |
26387070 |
Uncontrolled Keywords: |
AED; CDKL5; Ketogenic diet; Long-term efficacy |
BORIS DOI: |
10.7892/boris.89062 |
URI: |
https://boris.unibe.ch/id/eprint/89062 |
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