| H00810 | |
| H number | H00810 |
| Name | Progressive myoclonic epilepsy |
| Description | Progressive myoclonic epilepsy (EPM) 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, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), Dentatorubro-pallidoluysian atrophy (DRPLA), and type III Gaucher disease. 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 |
| Network | - |
| Gene | (EPM1A) CSTB [HSA:1476] [KO:K13907] (EPM1B) PRICKLE1 [HSA:144165] [KO:K04511] (EPM2A) EPM2A [HSA:7957] [KO:K14165] (EPM2B) NHLRC1 [HSA:378884] [KO:K10602] (EPM3) KCTD7 [HSA:154881] [KO:K21917] (EPM4) SCARB2 [HSA:950] [KO:K12384] (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] (EPM11) SEMA6B [HSA:10501] [KO:K06842] (EPM12) SLC7A6OS [HSA:84138] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A61.41 ICD-10: G40.3 MeSH: D020191 OMIM: 254800 612437 254780 611726 254900 614018 616187 616230 616540 616640 618876 619191 |
| Reference | PMID:20739785 AUTHORS Satishchandra P, Sinha S TITLE Progressive myoclonic epilepsy. JOURNAL Neurol India 58:514-22 (2010) DOI:10.4103/0028-3886.68660 PMID:19469843 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 PMID:20301774 AUTHORS Fox MH, Bassuk AG TITLE PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia JOURNAL GeneReviews (1993) PMID:8596935 (EPM1A) AUTHORS Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM TITLE Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) JOURNAL Science 271:1731-4 (1996) DOI:10.1126/science.271.5256.1731 PMID:18976727 (EPM1B) 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 PMID:9771710 (EPM2A) AUTHORS Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW TITLE Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. JOURNAL Nat Genet 20:171-4 (1998) DOI:10.1038/2470 PMID:12958597 (EPM2B) AUTHORS Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW TITLE Mutations in NHLRC1 cause progressive myoclonus epilepsy. JOURNAL Nat Genet 35:125-7 (2003) DOI:10.1038/ng1238 PMID:21710140 (EPM3) 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 PMID:18308289 (EPM4) AUTHORS Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lullmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M TITLE Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. JOURNAL Am J Hum Genet 82:673-84 (2008) DOI:10.1016/j.ajhg.2007.12.019 PMID:21549339 (EPM6) 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 PMID:25401298 (EPM7) 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 PMID:19243074 (EPM8) 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 PMID:25954030 (EPM9) 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 PMID:22961547 (EPM10) 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 PMID:32169168 (EPM11) AUTHORS Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N TITLE De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. JOURNAL Am J Hum Genet 106:549-558 (2020) DOI:10.1016/j.ajhg.2020.02.011 PMID:33085104 (EPM12) AUTHORS Mazzola L, Oliver KL, Labalme A, Baykan B, Muona M, Joensuu TH, Courage C, Chatron N, Borsani G, Alix E, Ramond F, Touraine R, Bahlo M, Bebek N, Berkovic SF, Lehesjoki AE, Lesca G TITLE Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS. JOURNAL Ann Neurol 89:402-407 (2021) DOI:10.1002/ana.25941 |