Condition: Myoclonic Epilepsies, Progressive
rs147484110 in
CSTB gene and
Myoclonic Epilepsies, Progressive
PMID 9012407 1997 Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
PMID 17003839 2007 Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
PMID 8596935 1996 Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
PMID 9360639 1997 G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene.
PMID 9054946 1997 Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
PMID 15483648 2005 Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
PMID 26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.
PMID 9342192 1997 Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.
PMID 17920138 2008 Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo.
PMID 10441148 1999 Importance of the second binding loop and the C-terminal end of cystatin B (stefin B) for inhibition of cysteine proteinases.
rs104893950 in
EPM2A gene and
Myoclonic Epilepsies, Progressive
PMID 9771710 1998 Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
PMID 25246353 2014 Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.
PMID 21623095 2011 Lafora disease: a case report, pathologic and genetic study.
PMID 14722920 2004 Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
rs1568177307 in
GOSR2;LRRC37A2 gene and
Myoclonic Epilepsies, Progressive
PMID 21549339 2011 A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
rs141554661 in
LRRC37A2;GOSR2 gene and
Myoclonic Epilepsies, Progressive
PMID 21549339 2011 A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
rs200053119 in
SCARB2 gene and
Myoclonic Epilepsies, Progressive
PMID 23659519 2014 Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.