Progressive myoclonic epilepsy (PME): causes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Progressive myoclonic epilepsy (PME): causes. Lafora body disease, Myoclonic epilepsy with ragged red fibers (MERRF). Fully referenced neurology checklist.
Classical causes
- Lafora body disease
- Myoclonic epilepsy with ragged red fibers (MERRF)
- Myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK)
- Neuronal ceroid lipofuscinosis (NCL)
- Sialidosis
- Unverricht-Lundborg disease (ULD)
Other causes
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New causative genetic mutations
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References
- Franceschetti S, Michelucci R, Canafoglia L, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology 2014; 82:405-411.
- Cameron JM, Ellis CA, Berkovic SF, et al. ILAE genetics literacy series: progressive myoclonus epilepsies. Epileptic Disord 2023 (Online ahead of print).
- Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 2005; 4:239-248.
- Kim S, Kim MJ, Son H, et al. Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS. Ann Clin Transl Neurol 2021; 8:2319-2326.
- Kim J, Kim I, Koh SB. A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia. Parkinsonism Relat Disord 2021; 87:135-136.
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