KEGG   DISEASE: H00810Help
Entry
H00810                      Disease                                

Name
Progressive myoclonic epilepsy (PME/ EPM), including:
Lafora disease (LBD);
Unverricht-Lundborg disease (ULD);
Neuronal ceroid lipofuscinoses (NCL);
Type I sialidosis;
Action myoclonus-renal failure syndrome (DRPLA);
Type III Gaucher disease (GD)
Description
Progressive myoclonic epilepsy (PME) is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME is a disease that afflicts previously normal children with ever-worsening and soon-intractable myoclonus and epilepsy, usually associated with neurodegeneration, and eventual dementia and early death. PME include Lafora disease (LBD), Unverricht-Lundborg disease (ULD), the neuronal ceroid lipofuscinoses (NCL), type I sialidosis (cherry-red spot myoclonus), action myoclonus-renal failure syndrome (AMRF/DRPLA), and type III Gaucher disease (GD). Almost all the autosomal recessively inherited PMEs are lysosomal diseases, with the exception of Lafora disease in which neither the accumulating material nor the gene products are in lysosomes. PME also occurs in various forms of mitochondrial encephalomyopathies, especially in myoclonic epilepsy with ragged-red fibers (MERRF).
Category
Nervous system disease
BRITE hierarchy
Pathway
Fatty acid elongation
Aminoacyl-tRNA biosynthesis
Other glycan degradation
Sphingolipid metabolism
Ubiquitin mediated proteolysis
Lysosome
Wnt signaling pathway
Gene
(LBD/ EPM2A) EPM2A [HSA:7957] [KO:K14165]
(LBD/ EPM2B) NHLRC1 [HSA:378884] [KO:K10602]
(LBD/ EPM1B) PRICKLE1 [HSA:144165] [KO:K04511]
(ULD/ EPM1) CSTB [HSA:1476] [KO:K13907]
(CLN1) PPT1 [HSA:5538] [KO:K01074]
(CLN2) TPP1 [HSA:1200] [KO:K01279]
(CLN3) CLN3 [HSA:1201] [KO:K12389]
(CLN5) CLN5 [HSA:1203] [KO:K12390]
(CLN6) CLN6 [HSA:54982] [KO:K12359]
(CLN7) MFSD8 [HSA:256471] [KO:K12307]
(CLN8) CLN8 [HSA:2055] [KO:K12360]
(CLN10) CTSD [HSA:1509] [KO:K01379]
(DRPLA/ EPM4) SCARB2 [HSA:950] [KO:K12384]
(Sialidosis) NEU1 [HSA:4758] [KO:K01186]
(GD III) NEU1 [HSA:2629] [KO:K01201]
(MERRF) MTTK [HSA:4566] [KO:K14229]
(MERRF) MTTL1 [HSA:4567] [KO:K14228]
(MERRF) MTTH [HSA:4564] [KO:K14226]
(MERRF) MTTS1 [HSA:4574] [KO:K14233]
(MERRF) MTTS2 [HSA:4575] [KO:K14233]
(MERRF) MTTF [HSA:4558] [KO:K14231]
(EPM3) KCTD7 [HSA:154881]
(EPM5) PRICKLE2 [HSA:166336] [KO:K04511]
(EPM6) GOSR2 [HSA:9570] [KO:K08496]
Drug
Clonazepam [DR:D00280]
Sodium valproate [DR:D00710]
Zonisamide [DR:D00538]
Piracetam [DR:D01914]
Levetiracetam [DR:D00709]
Comment
See [DS:H00126] for Gaucher disease, [DS:H00142] for sialidosis, and [DS:H00149] for neuronal ceroid lipofuscinoses (NCL).
Other DBs
Reference
PMID:20739785 (description, gene)
  Authors
Satishchandra P, Sinha S
  Title
Progressive myoclonic epilepsy.
  Journal
Neurol India 58:514-22 (2010)
Reference
PMID:19469843 (description, gene)
  Authors
Ramachandran N, Girard JM, Turnbull J, Minassian BA
  Title
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
  Journal
Epilepsia 50 Suppl 5:29-36 (2009)
Reference
PMID:18976727 (gene)
  Authors
Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI
  Title
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
  Journal
Am J Hum Genet 83:572-81 (2008)
Reference
  Authors
Azizieh R, Orduz D, Van Bogaert P, Bouschet T, Rodriguez W, Schiffmann SN, Pirson I, Abramowicz MJ
  Title
Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium  conductance in neurons.
  Journal
Mol Neurobiol 44:111-21 (2011)
Reference
  Authors
Fox MH, Bassuk AG
  Title
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
  Journal
(1993)
Reference
  Authors
Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, Rosenfeld JA, McConnell J, Madan-Khetarpal S, Berry-Kravis E, Griesbach H, Saneto RP, Scott MP, Antic D, Reed J, Boland R, Ehaideb SN, El-Shanti H, Mahajan VB, Ferguson PJ, Axelrod JD, Lehesjoki AE, Fritzsch B, Slusarski DC, Wemmie J, Ueno N, Bassuk AG
  Title
Mutations in prickle orthologs cause seizures in flies, mice, and humans.
  Journal
Am J Hum Genet 88:138-49 (2011)
Reference
  Authors
Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF
  Title
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
  Journal
Am J Hum Genet 88:657-63 (2011)

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