Disease #03454 (EPM (epilepsy, myoclonic, progressive (EPM)))

Official abbreviation EPM
Name epilepsy, myoclonic, progressive (EPM)
OMIM ID -
Inheritance -
Individuals reported having this disease 76
Phenotype entries for this disease 67
Associated with 2 genes CSTB, GOSR2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-03-01 10:29:51 +01:00 (CET)


Individuals

76 entries on 1 page. Showing entries 1 - 76.
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00301411 Fam9 PubMed: Mahmoud 2020 2-generation family, 1 affected, unaffected parents F yes (Egypt) - >10y - - - EPM see paper; ..., moderate; no hoarseness of voice; no joint pain, no joint contractures; no subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; fundus bilateral optic atrophy; developmental delay, seizures ASAH1 ASAH1 1 1 Mohamed A. Elmonem
00334899 PME83 PubMed: Courage 2021, Journal: Courage 2021 - M no Australia - - - - - EPM Developmental delay. Late walker and always unstaedy with tremor. Ataxia (approx 2.5y). Drop attacks and absence seizures (4y); TCS (11y); Wheelchair (11y);. Severe generalised and multifocal myoclonus (15y); myoclonic status. Slow cognitive regression from 5y. Severe intellectual disability. No pyramidal signs and head circumference normal. Alive age 37y. - SEMA6B 1 1 Carolina Courage
00334902 PME25 PubMed: Courage 2021, Journal: Courage 2021 - F no Canada Italy - - - - EPM Developmental delay. Walked independently at 2y; unsteady wide gait noted at 2.5y. Generalized epileptiform discharges recorded at 2.5yr. First TCS at 5y during illness. Recurrent convulsions some with a focal component. Resting and action myoclonus noted at 10y. Tremor. Increasing difficultly with gait from 11y; wheelchair by 14y. Dysarthria noted at 16y. Moderate intellectual disability; no definitive cognitive decline. No pyramidal signs and head circumference on 50th centile. Alive at 39y. - SEMA6B 1 1 Carolina Courage
00399378 patient PubMed: Praschberger 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - United Kingdom (Great Britain) - >61y - - - EPM see paper ..., progressive myoclonus epilepsy; 2y-mild gait ataxia, transient episodes omotor deterioration triggered by infection and fever; 14y-generalized action myoclonus, epilepsy; heterozygous carrier brother suffers from typical cervical dystonia GOSR2 GOSR2 2 1 Johan den Dunnen
00399381 Pat6 PubMed: Boisse Lomax 2013 patient, second cousin parents M yes Norway - - - - - EPM see paper; ..., 1y-ataxia; 4y6m-myoclonus; nocturnal status myoclonica; 8y6m-generalized tonic clonic seizures; 14m-febrile convulsion; scoliosis, thickened webbing between second and third toe; highest CK 1135 IU; 11y-wheelchair bound GOSR2 GOSR2 1 1 Johan den Dunnen
00399382 Pat7 PubMed: Boisse Lomax 2013 - M - Denmark - - - - - EPM see paper; ..., 3y-ataxia; 5y-myoclonus; 21y-generalized tonic clonic seizures; 7y-absence; drop attacks during fever; 2y-atypical absence; scoliosis, pes cavus; highest CK 2360 IU; 10y-wheelchair bound; 24y-dysphagia; 26y-PEG, respirator dependent GOSR2 GOSR2 1 1 Johan den Dunnen
00399383 Pat8 PubMed: Boisse Lomax 2013 - M - Netherlands - 27y - - - EPM see paper; ..., 3y6m-ataxia; 4y-myoclonus; 8y-generalized tonic clonic seizures; 5y-absence; scoliosis; highest CK 2467 IU; 10y-wheelchair bound; 25y-dysphagia; 27y-deceased status epilepticus GOSR2 GOSR2 1 1 Johan den Dunnen
00399384 Pat9 PubMed: Boisse Lomax 2013 - F - Germany - - - - - EPM see paper; ..., 2y-ataxia; 6y-myoclonus; 10y-generalized tonic clonic seizures; drop attacks; scoliosis, pes cavus; highest CK 500 IU; 14y-wheelchair bound GOSR2 GOSR2 1 1 Johan den Dunnen
00399385 Pat10 PubMed: Boisse Lomax 2013 - M yes Denmark - - - - - EPM see paper; ..., 3y-ataxia; 12y-myoclonus; 3y-generalized tonic clonic seizures, absence, drop attacks; scoliosis; highest CK 391 IU; 24y-wheelchair bound; 26y-dysphagia GOSR2 GOSR2 1 1 Johan den Dunnen
00399386 Pat11;Pat7 PubMed: Boisse Lomax 2013, PubMed: Polet 2020 - F - Netherlands - - - - - EPM see paper; ..., 2y3m-ataxia; 6y-myoclonus; 12y-generalized tonic clonic seizures; scoliosis, pes cavus; highest CK 989 IU; 10y-wheelchair bound; dysphagia early childhood GOSR2 GOSR2 1 1 Johan den Dunnen
00399389 PatIV1;Pat6 PubMed: Anderson 2016, PubMed: Polet 2020 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M - South Africa Germany-N - - - - EPM see paper; ... GOSR2 GOSR2 1 3 Johan den Dunnen
00399390 PatIV5;Pat15 PubMed: Anderson 2016, PubMed: Polet 2020 PatIV5 F - South Africa Germany-N - - - - EPM see paper; ... GOSR2 GOSR2 1 1 Johan den Dunnen
00399391 PatIV6;Pat13 PubMed: Anderson 2016, PubMed: Polet 2020 PatIV6 F - South Africa Germany-N - - - - EPM see paper; ... GOSR2 GOSR2 1 1 Johan den Dunnen
00399410 patients PubMed: Polet 2020 8 new patients F;M - - - - - - - EPM - GOSR2 GOSR2 1 8 Johan den Dunnen
00399412 - PubMed: Boisse Lomax 2013 - - - - - - - - - EPM - GOSR2 GOSR2 1 1 Johan den Dunnen
00399413 - PubMed: Boisse Lomax 2013 - - - - - - - - - EPM - GOSR2 GOSR2 1 1 Johan den Dunnen
00399414 - PubMed: Boisse Lomax 2013 - - - - - - - - - EPM - GOSR2 GOSR2 1 1 Johan den Dunnen
00399416 - PubMed: Boisse Lomax 2013 - - - - - - - - - EPM - GOSR2 GOSR2 1 1 Johan den Dunnen
00401200 Pat1 PubMed: Polet 2020 - M - - - - - - - EPM 2-3y-trembling/jerks, frequently falling; 4y-ataxia; 4y-myoclonus; walks GOSR2 GOSR2 1 1 Johan den Dunnen
00401201 Pat2 PubMed: Polet 2020 - M - - - - - - - EPM 1-2y-delayed motor development (difficulties sitting without support, 22m-walk), gait disorder, frequently falling, clumsiness, hypotonia; 2y-ataxia; 5y-myoclonus; 7y-seizures; walks GOSR2 GOSR2 1 1 Johan den Dunnen
00401202 Pat3 PubMed: Polet 2020 - F - - - - - - - EPM 1y-clumsiness, frequently falling; 2y-ataxia during intercurrent illness; 2y-ataxia; 3y-myoclonus; 7y-seizures; scoliosis, pes varus; barely walks, frequent use wheelchair; CK 2816 GOSR2 GOSR2 1 1 Johan den Dunnen
00401203 Pat10 PubMed: Polet 2020 - M - - - - - - - EPM slightly delayed development (11m-sit, 16m-walk); 4y-muscle weakness, areflexia, facial diplegia during intercurrent illness (initially presumed to be GBS); 5y-ataxia; 8y-myoclonus; 8y-seizures; scoliosis, pes cavus; barely walks, frequent use wheelchair; CH 83 GOSR2 GOSR2 1 1 Johan den Dunnen
00401204 Pat11 PubMed: Polet 2020 - M - - - - - - - EPM birth-jerks; 7y-clumsiness ; 8y-ataxia; 9y-myoclonus; 8y-seizures; scoliosis, syndactyly of hands and toes; barely walks, frequent use wheelchair; CK 182 GOSR2 GOSR2 1 1 Johan den Dunnen
00401205 Pat14 PubMed: Polet 2020 - M - - - - - - - EPM 2y-delayed motor development (2y-walk), gait disorder; ataxia; myoclonus; 6/7y-seizures; wheelchair bound; CK 237 GOSR2 GOSR2 1 1 Johan den Dunnen
00401206 Pat16 PubMed: Polet 2020 - F - - - - - - - EPM birth-hypotonia; 13m-walk on toes and needed support during walking; 4y-gait disorder, motoric skill impairment; ataxia; 5-6y-myoclonus; 8y-seizures; scoliosis; wheelchair bound GOSR2 GOSR2 1 1 Johan den Dunnen
00401207 Pat17 PubMed: Polet 2020 - F - - - - - - - EPM 2y-clumsiness, frequently falling, gait disorder after intercurrent illness; 3y-ataxia; 4y-myoclonus; 6y/7y-seizures; pes cavus; wheelchair bound GOSR2 GOSR2 1 1 Johan den Dunnen
00404796 Fam2 PubMed: Pennacchio 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404797 family PubMed: Pennacchio 1996 2 families - - - - - - - - EPM - CSTB CSTB 1 2 Johan den Dunnen
00404798 GVA01 PubMed: Lalioti 1997 - - - Morocco - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404799 GVA03 PubMed: Lalioti 1997 - - - France - - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
00404800 GVA08 PubMed: Lalioti 1997 - - - Switzerland - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404801 GVA09 PubMed: Lalioti 1997 - - - France - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404802 GVA10 PubMed: Lalioti 1997 - - - Spain - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404803 GVA07 PubMed: Lalioti 1997 - - - France - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404804 GVA06 PubMed: Lalioti 1997 - - - France - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404805 GVA02 PubMed: Lalioti 1997 - - - France - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404806 GVA04 PubMed: Lalioti 1997 - - - Finland;France - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404807 GVA05 PubMed: Lalioti 1997 - - - France - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404815 Fam1 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - EPM - CSTB CSTB 2 2 Johan den Dunnen
00404816 Fam2 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - EPM - CSTB CSTB 2 2 Johan den Dunnen
00404817 Fam3 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - EPM - CSTB CSTB 2 2 Johan den Dunnen
00404818 Fam4 PubMed: Lafreniere 1997 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - EPM - CSTB CSTB 2 2 Johan den Dunnen
00404819 Fam5 PubMed: Lafreniere 1997 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Canada French-Canadian - - - - EPM - CSTB CSTB 2 2 Johan den Dunnen
00404820 Fam6 PubMed: Lafreniere 1997 3-generation family, 1 affected, unaffected heterozygous carrier parents M yes Japan - - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
00404821 Fam7 PubMed: Lafreniere 1997 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Iran - - - - - EPM - CSTB CSTB 2 2 Johan den Dunnen
00404822 Fam8 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
00404823 Fam9 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany;England;France - - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
00404824 Fam10 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Cuba - - - - - EPM - CSTB CSTB 2 2 Johan den Dunnen
00404825 Fam11 PubMed: Lafreniere 1997 3-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents F;M - Denmark - - - - - EPM - CSTB CSTB 2 4 Johan den Dunnen
00404826 Fam12 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada French-Canadian;Ireland - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
00404827 Fam13 PubMed: Lafreniere 1997 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents M - Poland - - - - - EPM - CSTB CSTB 2 3 Johan den Dunnen
00404828 Fam14 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Denmark - - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
00404829 Fam15 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Hungary - - - - - EPM - CSTB CSTB 2 2 Johan den Dunnen
00404830 Fam16 PubMed: Lafreniere 1997 - M - Finland - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404831 Fam17 PubMed: Lafreniere 1997 - M - Finland - - - - - EPM - CSTB CSTB 1 1 Johan den Dunnen
00404832 Fam18 PubMed: Lafreniere 1997 - F - Finland - - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
00404833 Fam19 PubMed: Lafreniere 1997 - - - United States - - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
00404834 Fam20 PubMed: Lafreniere 1997 - - - United States - - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
00404835 PatEP6 PubMed: Bespalova 1997 Pat3 in Pranzatelli 1995 - - United States - - - - - EPM see paper; ... CSTB CSTB 1 1 Johan den Dunnen
00404860 family PubMed: Mazarib 2001 7-generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Israel Arab-Galilee - - - - EPM see paper; ... CSTB CSTB 1 7 Johan den Dunnen
00404863 Pat1 PubMed: Kagitani-Shimono 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - EPM see paper; ... CSTB CSTB 2 1 Johan den Dunnen
00404864 Pat2 PubMed: Kagitani-Shimono 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - EPM see paper; ... CSTB CSTB 1 1 Johan den Dunnen
00404865 patient PubMed: Pinto 2012 - M no Portugal - - - - - EPM see paper; ... CSTB CSTB 1 1 Johan den Dunnen
00404874 Pat1 PubMed: Canafoglia 2012 - M - Italy - - - - - EPM see paper; ... CSTB CSTB 2 1 Johan den Dunnen
00404875 Pat2 PubMed: Canafoglia 2012 2-generation family, 2 affected brothers M - Spain - - - - - EPM see paper; ... CSTB CSTB 2 2 Johan den Dunnen
00404876 Pat3 PubMed: Canafoglia 2012 brother M - Spain - - - - - EPM see paper; ... CSTB CSTB 2 1 Johan den Dunnen
00404877 Pat4 PubMed: Canafoglia 2012 - M - Italy - - - - - EPM see paper; ... CSTB CSTB 2 1 Johan den Dunnen
00404878 Pat5 PubMed: Canafoglia 2012 - M - Italy - - - - - EPM see paper; ... CSTB CSTB 2 1 Johan den Dunnen
00404879 Pat6 PubMed: Canafoglia 2012 - M - Italy - - - - - EPM see paper; ... CSTB CSTB 2 1 Johan den Dunnen
00404880 Pat7 PubMed: Canafoglia 2012 2-generation family, 2 affected brothers M - Italy - - - - - EPM see paper; ... CSTB CSTB 2 2 Johan den Dunnen
00404881 Pat8 PubMed: Canafoglia 2012 brother M - Italy - - - - - EPM see paper; ... CSTB CSTB 2 1 Johan den Dunnen
00404882 patients PubMed: Canafoglia 2012 40 homozygous individuals - - Italy - - - - - EPM see paper; ... CSTB CSTB 1 40 Johan den Dunnen
00404884 Fam7Pat51/52 PubMed: Larson 1999 family, 2 affected - - (United States) - - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
00404885 Fam15Pat142/143 PubMed: Larson 1999 family, 2 affected - - (United States) - - - - - EPM - CSTB CSTB 2 2 Johan den Dunnen
00404886 Fam16Pat27 PubMed: Larson 1999 - - - (United States) - - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
00404887 Fam17Pat163 PubMed: Larson 1999 - - - (United States) - - - - - EPM - CSTB CSTB 2 1 Johan den Dunnen
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