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Eur J Paediatr Neurol. 2016 Jan;20(1):147-51. doi: 10.1016/j.ejpn.2015.09.001. Epub 2015 Sep 10.

Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy.

Author information

1
Clinic for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany.
2
Department of Neuropediatrics, Christian-Albrechts-Univerisity of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA.
3
Epilepsieklinik für Kinder und Jugendliche, Epilepsiezentrum Kork, Germany.
4
Child Neurology Unit, A. Meyer Children's Hospital, University of Florence, Italy.
5
Department of Neuropediatrics, Christian-Albrechts-Univerisity of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.
6
Service de Neurologie Pédiatrique et des Maladies Métaboliques, Hôpital Robert Debré, Paris, France.
7
Neuropädiatrie, Zentrum für Kinder- und Jugendmedizin, Klinikum Oldenburg, Germany.
8
Children's Hospital Birmingham, England, UK.
9
Neuropädiatrie, Stauferklinikum Mutlangen, Germany.
10
Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Institute Gaslini, University of Genova, Italy.
11
Child Neurology, VU University Medical Center, Amsterdam, Netherlands.
12
Neuropädiatrie, Kath. Kinderkrankenhaus Wilhelmstift, Hamburg, Germany.
13
Neuropädiatrie, Klinik für Kinder- und Jugendmedizin, Klinik der Ruhr-Universität, Bochum, Germany.
14
Neurology Department, Bethesda Children's Hospital, Budapest, Hungary.
15
Neuropädiatrie, Kinderklinik Amsterdamer Straße, Kliniken der Stadt Köln, Germany.
16
Kinderklinik Münster, Neuropädiatrie, Germany.
17
Epilepsiezentrum Radeberg-Kleinwachau, Germany.
18
Department of Neurology-Child Neurology, University Hospital and University of Antwerp, Belgium.
19
University Children's Hospital Zurich, Switzerland.
20
Sozialpädiatrisches Zentrum Frankfurt Mitte, Germany.
21
Rare Diseases Clinical Research Network, Boston Children's Hospital, USA.
22
BC Children's Hospital, Department of Pediatrics, Vancouver, Canada.
23
Clinic for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical University, Salzburg, Austria.
24
Clinic for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical University, Salzburg, Austria. Electronic address: gkluger@schoen-kliniken.de.

Abstract

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.

KEYWORDS:

AED; CDKL5; Ketogenic diet; Long-term efficacy

PMID:
26387070
DOI:
10.1016/j.ejpn.2015.09.001
[Indexed for MEDLINE]

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