title: The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study.
abstract: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures. Our aim was to evaluate the efficacy of the modified Atkins diet in patients with North Sea Progressive Myoclonus Epilepsy.
  
  
  
  Four North Sea Progressive Myoclonus Epilepsy patients (aged 7-20 years) participated in an observational, prospective, open-label study on the efficacy of the modified Atkins diet. Several clinical parameters were assessed at baseline and again after participants had been on the diet for 3 months. The primary outcome measure was health-related quality of life, with seizure frequency and blinded rated myoclonus severity as secondary outcome measures. Ketosis was achieved within 2 weeks and all patients completed the 3 months on the modified Atkins diet. The diet was well tolerated by all four patients. Health-related quality of life improved considerably in one patient and showed sustained improvement during long-term follow-up, despite the progressive nature of the disorder. Health-related quality of life remained broadly unchanged in the other three patients and they did not continue the diet. Seizure frequency remained stable and blinded rating of their myoclonus showed improvement, albeit modest, in all patients.
  
  
  
  This observational, prospective study shows that some North Sea Progressive Myoclonus Epilepsy patients may benefit from the modified Atkins diet with sustained health-related quality of life improvement. Not all our patients continued on the diet, but nonetheless we show that the modified Atkins diet might be considered as a possible treatment in this devastating disorder.
authors.affiliation: Department of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.|Department of Neurology, Ommelander Ziekenhuis Groningen, PO Box 30.000, 9670 RA, Winschoten, The Netherlands.
authors.forename: Martje E
authors.initials: ME
authors.lastname: van Egmond
authors.affiliation: Department of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
authors.forename: Amerins
authors.initials: A
authors.lastname: Weijenberg
authors.affiliation: Department of Paediatrics, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
authors.forename: Margreet E
authors.initials: ME
authors.lastname: van Rijn
authors.affiliation: Department of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
authors.forename: Jan Willem J
authors.initials: JW
authors.lastname: Elting
authors.affiliation: Department of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
authors.forename: Jeannette M
authors.initials: JM
authors.lastname: Gelauff
authors.affiliation: Department of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
authors.forename: Rodi
authors.initials: R
authors.lastname: Zutt
authors.affiliation: Department of Paediatrics, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Sival
authors.affiliation: Department of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
authors.forename: Roald A
authors.initials: RA
authors.lastname: Lambrechts
authors.affiliation: Department of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
authors.forename: Marina A J
authors.initials: MA
authors.lastname: Tijssen
authors.affiliation: Department of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
authors.forename: Oebele F
authors.initials: OF
authors.lastname: Brouwer
authors.affiliation: Department of Paediatrics, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands. t.j.de.koning@umcg.nl.|Department of Genetics, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands. t.j.de.koning@umcg.nl.
authors.forename: Tom J
authors.initials: TJ
authors.lastname: de Koning
mesh_terms: D000293:Adolescent; D002648:Child; D000076107:Diet, High-Protein Low-Carbohydrate; D004569:Electroencephalography; D006801:Humans; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000178:diet therapy*; D016896:Treatment Outcome; D055815:Young Adult
keywords: Epilepsy; GOSR2 gene; Ketogenic diet; Modified Atkins diet; Myoclonus; North Sea Progressive Myoclonus Epilepsy; Quality of life; Treatment