The progressive myoclonic epilepsies

Malek, Naveed; Stewart, William; Greene, J

doi:10.1136/practneurol-2014-000994

Cited by 54 publications

(89 citation statements)

References 55 publications

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“…125 Metabolic aetiologies, such as neuronal ceroid lipofuscinoses, 126 are well recognized in progressive myoclonic epilepsies, but many other genetic causes have also been described including mutations in CSTB (Unverricht-Lundborg disease), EPM2A (Lafora disease), GOSR2, KCNC1, PRICKLE1, SCARB2, and KCTD7. 125 Metabolic aetiologies, such as neuronal ceroid lipofuscinoses, 126 are well recognized in progressive myoclonic epilepsies, but many other genetic causes have also been described including mutations in CSTB (Unverricht-Lundborg disease), EPM2A (Lafora disease), GOSR2, KCNC1, PRICKLE1, SCARB2, and KCTD7.…”

Section: The Progressive Myoclonic Epilepsiesmentioning

confidence: 99%

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The expanding spectrum of movement disorders in genetic epilepsies

Papandreou

Danti

Spaull

et al. 2019

Develop Med Child Neuro

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An ever‐increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the ‘genetic epilepsy‐dyskinesia’ spectrum are clinically and genetically heterogeneous. Increased clinical awareness is therefore necessary for a rational diagnostic approach. Furthermore, careful interpretation of genetic results is key to establishing the correct diagnosis and initiating disease‐specific management strategies in a timely fashion. In this review we describe the spectrum of movement disorders associated with genetically determined epilepsies. We also propose diagnostic strategies and putative pathogenic mechanisms causing these complex syndromes associated with both seizures and atypical motor control. What this paper adds Implicated genes encode proteins with very diverse functions. Pathophysiological mechanisms by which epilepsy and movement disorder phenotypes manifest are often not clear. Early diagnosis of treatable disorders is essential and next generation sequencing may be required.

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Section: The Progressive Myoclonic Epilepsiesmentioning

confidence: 99%

“…[127][128][129][130][131][132] These genes encode proteins with a wide variety of cellular functions, such as intracellular trafficking (GOSR2), 133 lysosomal function (SCARB2), and sodium channels (KCNC1). 126 Lafora disease and neuronal ceroid lipofuscinoses).…”

Section: The Progressive Myoclonic Epilepsiesmentioning

confidence: 99%

The expanding spectrum of movement disorders in genetic epilepsies

Papandreou

Danti

Spaull

et al. 2019

Develop Med Child Neuro

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“…PMEs may affect all ages, but typically present in late childhood or adolescence. The prognosis is generally poor, with people with PME eventually wheel-chair bound and with reduced life expectancy1.…”

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confidence: 99%

Neurophysiological and BOLD signal uncoupling of giant somatosensory evoked potentials in progressive myoclonic epilepsy: a case-series study

Storti

Felice

Canafoglia

et al. 2017

Sci Rep

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In progressive myoclonic epilepsy (PME), a rare epileptic syndrome caused by a variety of genetic disorders, the combination of peripheral stimulation and functional magnetic resonance imaging (fMRI) can shed light on the mechanisms underlying cortical dysfunction. The aim of the study is to investigate sensorimotor network modifications in PME by assessing the relationship between neurophysiological findings and blood oxygen level dependent (BOLD) activation. Somatosensory-evoked potential (SSEP) obtained briefly before fMRI and BOLD activation during median-nerve electrical stimulation were recorded in four subjects with typical PME phenotype and compared with normative data. Giant scalp SSEPs with enlarger N20-P25 complex compared to normal data (mean amplitude of 26.2 ± 8.2 μV after right stimulation and 27.9 ± 3.7 μV after left stimulation) were detected. Statistical group analysis showed a reduced BOLD activation in response to median nerve stimulation in PMEs compared to controls over the sensorimotor (SM) areas and an increased response over subcortical regions (p < 0.01, Z > 2.3, corrected). PMEs show dissociation between neurophysiological and BOLD findings of SSEPs (giant SSEP with reduced BOLD activation over SM). A direct pathway connecting a highly restricted area of the somatosensory cortex with the thalamus can be hypothesized to support the higher excitability of these areas.

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“…Both myoclonic jerks and seizures can be treated with anti-epileptic drugs, but the benefits are disappointingly limited. Progressive myoclonic epilepsies, as a group, are not amenable to epilepsy surgery [4]. Vagus nerve stimulation can lead to seizure reduction, but does not help control the myoclonus [5].…”

Section: Introductionmentioning

confidence: 99%

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study

Egmond

Weijenberg

Rijn

et al. 2017

Orphanet J Rare Dis

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BackgroundNorth 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.ResultsFour 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.ConclusionsThis 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.

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The progressive myoclonic epilepsies

Cited by 54 publications

References 55 publications

The expanding spectrum of movement disorders in genetic epilepsies

The expanding spectrum of movement disorders in genetic epilepsies

Neurophysiological and BOLD signal uncoupling of giant somatosensory evoked potentials in progressive myoclonic epilepsy: a case-series study

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study

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