Details of Disease

Disease Name

Unverricht-Lundborg syndrome

Uld; epilepsy, progressive myoclonic, 1; progressive myoclonic epilepsy; epilepsy, progressive myoclonic type 1; EPM1; Baltic myoclonic epilepsy; epilepsy, progressive myoclonic, 1A; myoclonus progressive epilepsy of Unverricht and Lundborg; progressive myoclonus epilepsy Baltic myoclonic epilepsy; epilepsy, progressive myoclonus 1; myoclonic epilepsy of Unverricht and Lundborg; Unverricht-Lundborg disease; epilepsy, progressive myoclonic 1A (Unverricht and Lundborg); ULD; progressive myoclonic epilepsy type 1; Unverricht - Lundborg disease; progressive myoclonus epilepsy type 1; Unverricht's disease; PME type 1; Unverricht-Lundborg syndrome

Definition

Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.

Disease Hierarchy

DISAMCNS: Progressive myoclonus epilepsy

DISOJJ2D: Movement disorder

DISG4WLX: Unverricht-Lundborg syndrome

Disease Identifiers

MONDO ID

MONDO_0009698

MESH ID

D020194

UMLS CUI

C0751785

OMIM ID

254800

MedGen ID

155923

Orphanet ID

308

SNOMED CT ID

230423006

General Information of Disease (ID: DISG4WLX)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLN6	TTJCOQ7	Strong	Genetic Variation	[1]
KCNC1	TTVUWHQ	Strong	Genetic Variation	[2]
KCNQ2	TTPXI3S	Strong	Biomarker	[3]
KCNQ3	TTIVDM3	Strong	Biomarker	[3]
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This Disease Is Related to 24 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BSCL2	OT73V6Y4	Limited	Genetic Variation	[4]
EPM2A	OTJU4IAG	Limited	Genetic Variation	[5]
PRICKLE1	OT9HHEM9	Supportive	Autosomal recessive	[6]
SCARB2	OTN929M8	Supportive	Autosomal recessive	[7]
ASAH1	OT1DNGXL	Strong	Genetic Variation	[8]
BET1	OTGX2557	Strong	Genetic Variation	[9]
CARS2	OTGLZOFP	Strong	Biomarker	[10]
COL6A2	OTQC6PPO	Strong	Genetic Variation	[11]
DHX40	OTOL02QN	Strong	Biomarker	[12]
GOSR2	OTYHIYN2	Strong	Biomarker	[13]
LMNB2	OTXRDUOS	Strong	Genetic Variation	[14]
LSM2	OTHL77NY	Strong	Biomarker	[15]
PFKL	OTVHGAT7	Strong	Genetic Variation	[16]
PWP2	OTG6BNPG	Strong	Biomarker	[17]
SACS	OTZGXQ8A	Strong	Genetic Variation	[2]
SEC22B	OTERD9S1	Strong	Genetic Variation	[9]
SERPINI1	OTUJHIJW	Strong	Genetic Variation	[18]
STX5	OTQ0024B	Strong	Biomarker	[9]
TBC1D24	OTKZUSMD	Strong	Genetic Variation	[2]
TMED9	OTYGAQS0	Strong	Biomarker	[19]
TMPRSS3	OT0GTO1Z	Strong	Genetic Variation	[20]
TRAPPC10	OTF6EAQX	Strong	Biomarker	[21]
CSTB	OT3U0JF8	Definitive	Autosomal recessive	[22]
KCTD7	OTRU3EOK	Definitive	Biomarker	[23]
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⏷ Show the Full List of 24 DOT(s)

References

1	First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.Brain Dev. 2016 Oct;38(9):852-6. doi: 10.1016/j.braindev.2016.04.007. Epub 2016 May 7.
2	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.
3	Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet. 1995 May;10(1):117-8. doi: 10.1038/ng0595-117.
4	Berardinelli-Seip syndrome and progressive myoclonus epilepsy.Epileptic Disord. 2019 Feb 1;21(1):117-121. doi: 10.1684/epd.2019.1038.
5	Debate: Does genetic information in humans help us treat patients PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all. Epilepsia. 2008 Dec;49 Suppl 9:13-24.
6	A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83(5):572-81. doi: 10.1016/j.ajhg.2008.10.003. Epub 2008 Oct 30.
7	SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765.
8	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.
9	Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.Dis Model Mech. 2017 Dec 19;10(12):1391-1398. doi: 10.1242/dmm.029132.
10	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.
11	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.
12	Neuroimaging-based brain-age prediction in diverse forms of epilepsy: a signature of psychosis and beyond.Mol Psychiatry. 2021 Mar;26(3):825-834. doi: 10.1038/s41380-019-0446-9. Epub 2019 Jun 3.
13	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.
14	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.
15	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.
16	Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet. 1997 Feb;60(2):342-51.
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	SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.Am J Med Genet A. 2017 Sep;173(9):2456-2460. doi: 10.1002/ajmg.a.38317. Epub 2017 Jun 20.
19	Long-term follow-up of cortical hyperexcitability in Japanese Unverricht-Lundborg disease.Seizure. 2014 Oct;23(9):746-50. doi: 10.1016/j.seizure.2014.06.002. Epub 2014 Jun 25.
20	Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.Epilepsia. 2009 Jun;50(6):1612-5. doi: 10.1111/j.1528-1167.2008.01937.x. Epub 2008 Dec 15.
21	Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3.Hum Mol Genet. 1995 Apr;4(4):709-16. doi: 10.1093/hmg/4.4.709.
22	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.
23	Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy.Clin Chim Acta. 2019 Jun;493:87-91. doi: 10.1016/j.cca.2019.02.028. Epub 2019 Feb 28.