KEGG   DISEASE: Progressive myoclonic epilepsy (PME/ EPM)Help
Entry
H00810                      Disease                                

Name
Progressive myoclonic epilepsy (PME/ EPM)
  Subgroup
Lafora disease (LBD) [DS:H01994]
Unverricht-Lundborg disease (ULD) [DS:H01995]
Neuronal ceroid lipofuscinoses (NCL) [DS:H00149]
Type I sialidosis [DS:H00142]
Dentatorubro-pallidoluysian atrophy (DRPLA) [DS:H00060]
Type III Gaucher disease (GD) [DS:H00126]
Myoclonic epilepsy with ragged-red fibers [DS:H01356]
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), Dentatorubro-pallidoluysian atrophy (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
Human diseases [BR:br08402]
 Nervous system diseases
  Epilepsy
   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
Pathway
hsa00062  Fatty acid elongation
hsa00970  Aminoacyl-tRNA biosynthesis
hsa00511  Other glycan degradation
hsa00600  Sphingolipid metabolism
hsa04120  Ubiquitin mediated proteolysis
hsa04142  Lysosome
hsa04310  Wnt signaling pathway
Gene
(LBD/ EPM2A) EPM2A [HSA:7957] [KO:K14165]
(LBD/ EPM2B) NHLRC1 [HSA:378884] [KO:K10602]
(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) ATN1 [HSA:1822] [KO:K05626]
(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] [KO:K21917]
(EPM4) SCARB2 [HSA:950] [KO:K12384]
(EPM5) PRICKLE2 [HSA:166336] [KO:K04511]
(EPM6) GOSR2 [HSA:9570] [KO:K08496]
(EPM7) KCNC1 [HSA:3746] [KO:K04887]
(EPM8) CERS1 [HSA:10715] [KO:K04710]
(EPM9) LMNB2 [HSA:84823] [KO:K07611]
(EPM10) PRDM8 [HSA:56978] [KO:K20797]
Other DBs
ICD-10: G40.3
MeSH: D020191
OMIM: 204200 204300 204500 231000 254780 254800 254900 256550 256730 256731 545000 600143 601780 610003 610951 612437 611726 613832 614018 616187 616230 616540 616640
Reference
PMID:20739785 (description, gene)
  Authors
Satishchandra P, Sinha S
  Title
Progressive myoclonic epilepsy.
  Journal
Neurol India 58:514-22 (2010)
DOI:10.4103/0028-3886.68660
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)
DOI:10.1111/j.1528-1167.2009.02117.x
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)
DOI:10.1016/j.ajhg.2008.10.003
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)
DOI:10.1007/s12035-011-8194-0
Reference
  Authors
Fox MH, Bassuk AG
  Title
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
  Journal
GeneReviews (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)
DOI:10.1016/j.ajhg.2010.12.012
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)
DOI:10.1016/j.ajhg.2011.04.011
Reference
PMID:25401298 (gene)
  Authors
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Moller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE
  Title
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
  Journal
Nat Genet 47:39-46 (2015)
DOI:10.1038/ng.3144
Reference
PMID:19243074 (gene)
  Authors
Ferlazzo E, Italiano D, An I, Calarese T, Laguitton V, Bramanti P, Di Bella P, Genton P
  Title
Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.
  Journal
Mov Disord 24:1016-22 (2009)
DOI:10.1002/mds.22489
Reference
PMID:25954030 (gene)
  Authors
Damiano JA, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, Oliver KL, Dahl HH, Shearer AE, Smith RJ, Hall NE, Mahmood K, Leventer RJ, Scheffer IE, Muona M, Lehesjoki AE, Korczyn AD, Herrmann H, Berkovic SF, Hildebrand MS
  Title
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
  Journal
Hum Mol Genet 24:4483-90 (2015)
DOI:10.1093/hmg/ddv171
Reference
PMID:22961547 (gene)
  Authors
Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA
  Title
Early-onset Lafora body disease.
  Journal
Brain 135:2684-98 (2012)
DOI:10.1093/brain/aws205

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