Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs545986367
rs545986367
CSTB
A 0.700 CausalMutation CLINVAR CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. 26843564

2016
dbSNP: rs104893950
rs104893950
EPM2A
A 0.700 CausalMutation CLINVAR Late onset Lafora disease and novel EPM2A mutations: breaking paradigms. 25246353

2014
dbSNP: rs200053119
rs200053119
SCARB2
A 0.700 CausalMutation CLINVAR Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. 23659519

2014
dbSNP: rs147484110
rs147484110
CSTB
G 0.700 CausalMutation CLINVAR Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations. 23205931

2012
dbSNP: rs104893950
rs104893950
EPM2A
A 0.700 CausalMutation CLINVAR Lafora disease: a case report, pathologic and genetic study. 21623095

2011
dbSNP: rs141554661
rs141554661
GOSR2 ; LRRC37A2
A 0.700 GeneticVariation CLINVAR A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339

2011
dbSNP: rs1568177307
rs1568177307
GOSR2 ; LRRC37A2
G 0.700 GeneticVariation CLINVAR A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339

2011
dbSNP: rs796943858
rs796943858
CSTB
G 0.700 CausalMutation CLINVAR Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo. 17920138

2008
dbSNP: rs147484110
rs147484110
CSTB
G 0.700 CausalMutation CLINVAR Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. 17003839

2007
dbSNP: rs545986367
rs545986367
CSTB
A 0.700 CausalMutation CLINVAR Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. 15483648

2005
dbSNP: rs796943858
rs796943858
CSTB
G 0.700 CausalMutation CLINVAR Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. 15483648

2005
dbSNP: rs781291421
rs781291421
EPM2A
T 0.700 CausalMutation CLINVAR Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. 14722920

2004
dbSNP: rs796943858
rs796943858
CSTB
G 0.700 CausalMutation CLINVAR Importance of the second binding loop and the C-terminal end of cystatin B (stefin B) for inhibition of cysteine proteinases. 10441148

1999
dbSNP: rs104893950
rs104893950
EPM2A
A 0.700 CausalMutation CLINVAR Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. 9771710

1998
dbSNP: rs147484110
rs147484110
CSTB
G 0.700 CausalMutation CLINVAR G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene. 9360639

1997
dbSNP: rs147484110
rs147484110
CSTB
G 0.700 CausalMutation CLINVAR Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. 9054946

1997
dbSNP: rs147484110
rs147484110
CSTB
G 0.700 CausalMutation CLINVAR Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). 9012407

1997
dbSNP: rs796943858
rs796943858
CSTB
G 0.700 CausalMutation CLINVAR Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. 9054946

1997
dbSNP: rs796943858
rs796943858
CSTB
G 0.700 CausalMutation CLINVAR Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. 9342192

1997
dbSNP: rs147484110
rs147484110
CSTB
G 0.700 CausalMutation CLINVAR Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) 8596935

1996
dbSNP: rs545986367
rs545986367
CSTB
A 0.700 CausalMutation CLINVAR Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) 8596935

1996
dbSNP: rs1569006250
rs1569006250
CSTB
A 0.700 CausalMutation CLINVAR

dbSNP: rs727502818
rs727502818
KCNC1
0.020 GeneticVariation BEFREE To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy-causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype-phenotype-physiological correlations. 31353855

2019
dbSNP: rs727502818
rs727502818
KCNC1
0.020 GeneticVariation BEFREE p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. 28145425

2017
dbSNP: rs364897
rs364897
GBA
0.010 GeneticVariation BEFREE We strengthen the association of Asn188Ser with the type 3 GD phenotype and progressive myoclonus epilepsy. 30382391

2019