General Information of Disease (ID: DISAMCNS)

Disease Name Progressive myoclonus epilepsy
Synonyms familial progressive myoclonic epilepsy; progressive myoclonic epilepsy (disorder) [ambiguous]; PME; progressive myoclonic epilepsy; epilepsy, progressive myoclonic; progressive myoclonus epilepsy
Definition A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISBRSHM: Variable age onset epilepsy
DISLWDHW: Adolescent-onset epilepsy syndrome
DISYKM6G: Childhood-onset epilepsy syndrome
DISAMCNS: Progressive myoclonus epilepsy
Disease Identifiers
MONDO ID
MONDO_0020074
MESH ID
D020191
UMLS CUI
C0751778
OMIM ID
310370
MedGen ID
199732
Orphanet ID
98261
SNOMED CT ID
267581004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
C9orf72 TTA4SHR Limited Autosomal dominant [1]
CACNA1A TTX4QDJ Limited Genetic Variation [2]
KCNC1 TTVUWHQ Limited Genetic Variation [3]
CLN6 TTJCOQ7 Strong Biomarker [4]
PDE7B TTWIEY9 Strong Biomarker [5]
PRNP TTY5F9C Strong Biomarker [4]
KCNC1 TTVUWHQ Definitive Autosomal dominant [6]
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⏷ Show the Full List of 7 DTT(s)
This Disease Is Related to 25 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C9orf72 OT0WH38E Limited Autosomal dominant [1]
GOSR2 OTYHIYN2 Limited Genetic Variation [7]
PRICKLE1 OT9HHEM9 Limited Autosomal recessive [6]
CSTB OT3U0JF8 moderate Biomarker [8]
AFG3L2 OTRPMAUX Strong Biomarker [4]
ASAH1 OT1DNGXL Strong Genetic Variation [9]
BSCL2 OT73V6Y4 Strong Genetic Variation [10]
CARS2 OTGLZOFP Strong Biomarker [11]
COL6A2 OTQC6PPO Strong Genetic Variation [12]
EPM2A OTJU4IAG Strong Genetic Variation [13]
GPR37 OTIMDDI3 Strong Genetic Variation [14]
GPR37L1 OTOV08EV Strong Genetic Variation [14]
LMNB2 OTXRDUOS Strong Genetic Variation [15]
LSM2 OTHL77NY Strong Biomarker [16]
NEU1 OTH9BY8Y Strong Biomarker [4]
NHLRC1 OTRQ0A4W Strong Genetic Variation [13]
NMBR OTBJEGPN Strong Genetic Variation [5]
PWP2 OTG6BNPG Strong Biomarker [17]
SACS OTZGXQ8A Strong Biomarker [4]
TBC1D24 OTKZUSMD Strong Biomarker [4]
TSC1 OTFF4YZ7 Strong Biomarker [18]
KCNC1 OTW9WF1J Definitive Autosomal dominant [6]
KCTD7 OTRU3EOK Definitive Autosomal recessive [6]
SCARB2 OTN929M8 Definitive Autosomal recessive [6]
SERPINI1 OTUJHIJW Definitive Autosomal dominant [6]
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⏷ Show the Full List of 25 DOT(s)

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy.Neuropsychiatr Dis Treat. 2017 Oct 19;13:2631-2636. doi: 10.2147/NDT.S145774. eCollection 2017.
3 KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.Ann Clin Transl Neurol. 2019 Jul;6(7):1319-1326. doi: 10.1002/acn3.50799. Epub 2019 Jun 7.
4 A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17.
5 PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-Control and Pharmacogenetics Study.Neuropsychobiology. 2016;73(3):160-8. doi: 10.1159/000445295. Epub 2016 Apr 20.
6 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
7 Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy.Neuroscience. 2019 Nov 10;420:41-49. doi: 10.1016/j.neuroscience.2019.03.057. Epub 2019 Apr 4.
8 Possible Mechanisms by which Stefin B could Regulate Proteostasis and Oxidative Stress.Cells. 2019 Jan 18;8(1):70. doi: 10.3390/cells8010070.
9 ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.Eur J Hum Genet. 2016 Nov;24(11):1578-1583. doi: 10.1038/ejhg.2016.28. Epub 2016 Mar 30.
10 Berardinelli-Seip syndrome and progressive myoclonus epilepsy.Epileptic Disord. 2019 Feb 1;21(1):117-121. doi: 10.1684/epd.2019.1038.
11 A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology. 2014 Dec 2;83(23):2183-7. doi: 10.1212/WNL.0000000000001055. Epub 2014 Oct 31.
12 Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.Hum Genet. 2013 Mar;132(3):275-83. doi: 10.1007/s00439-012-1248-1. Epub 2012 Nov 9.
13 Lafora disease.Epileptic Disord. 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842.
14 GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.Neurobiol Dis. 2017 Oct;106:181-190. doi: 10.1016/j.nbd.2017.07.006. Epub 2017 Jul 6.
15 Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. Hum Mol Genet. 2015 Aug 15;24(16):4483-90. doi: 10.1093/hmg/ddv171. Epub 2015 May 7.
16 The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3.Genomics. 1996 Apr 15;33(2):298-300. doi: 10.1006/geno.1996.0196.
17 A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3.Cytogenet Cell Genet. 1996;74(1-2):140-5. doi: 10.1159/000134402.
18 The natural history and treatment of epilepsy in a murine model of tuberous sclerosis.Epilepsia. 2007 Aug;48(8):1470-6. doi: 10.1111/j.1528-1167.2007.01110.x. Epub 2007 May 1.