KEGG   DISEASE: H00810Help
H00810                      Disease                                

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)
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).
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00810  Progressive myoclonic epilepsy (PME)
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G40-G47  Episodic and paroxysmal disorders
   G40  Epilepsy and recurrent seizures
    H00810  Progressive myoclonic epilepsy (PME)
BRITE hierarchy
Fatty acid elongation
Aminoacyl-tRNA biosynthesis
Other glycan degradation
Sphingolipid metabolism
Ubiquitin mediated proteolysis
Wnt signaling pathway
(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]
Clonazepam [DR:D00280]
Sodium valproate [DG:DG00849]
Zonisamide [DR:D00538]
Piracetam [DR:D01914]
Levetiracetam [DR:D00709]
See [DS:H00126] for Gaucher disease, [DS:H00142] for sialidosis, and [DS:H00149] for neuronal ceroid lipofuscinoses (NCL).
Other DBs
PMID:20739785 (description, gene)
Satishchandra P, Sinha S
Progressive myoclonic epilepsy.
Neurol India 58:514-22 (2010)
PMID:19469843 (description, gene)
Ramachandran N, Girard JM, Turnbull J, Minassian BA
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
Epilepsia 50 Suppl 5:29-36 (2009)
PMID:18976727 (gene)
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
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
Am J Hum Genet 83:572-81 (2008)
Azizieh R, Orduz D, Van Bogaert P, Bouschet T, Rodriguez W, Schiffmann SN, Pirson I, Abramowicz MJ
Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium  conductance in neurons.
Mol Neurobiol 44:111-21 (2011)
Fox MH, Bassuk AG
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
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
Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Am J Hum Genet 88:138-49 (2011)
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
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Am J Hum Genet 88:657-63 (2011)

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