Lafora body disease: pathology
Evidence-based neurology checklist on lafora body disease: pathology: Genetic mutations EPM2A: this is on chromosome 6q and it encodes laforin EPM2B (NHLRC1): this is on chromosome 6p and it encodes malin E3 ubiquitin ligase PRDM8: this is on chromosome 4q NHLRC1 variant: case report Pathology…
Genetic mutations
- EPM2A: this is on chromosome 6q and it encodes laforin
- EPM2B (NHLRC1): this is on chromosome 6p and it encodes malin E3 ubiquitin ligase
- PRDM8: this is on chromosome 4q
- NHLRC1 variant: case report
Pathology
Electroencephalogram (EEG): features
References
- Chan EM, Omer S, Ahmed M, et al. Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. Neurology 2004; 63:565-567.
- Romá-Mateo C, Sanz P, Gentry MS. Deciphering the role of malin in the lafora progressive myoclonus epilepsy. IUBMB Life 2012; 64:801-808.
- Lohi H, Turnbull J, Zhao XC, et al. Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology 2007; 68:996-1001.
- Franceschetti S, Michelucci R, Canafoglia L, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology 2014; 82:405-411.
- Andrade DM, Turnbull J, Minassian BA. Lafora disease, seizures and sugars. Acta Myol 2007; 26:83-86.
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