Condition: Unverricht-Lundborg Syndrome
rs147484110 in
CSTB gene and
Unverricht-Lundborg Syndrome
PMID 9360639 1997 G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene.
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 17003839 2007 Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
PMID 11814737 2002 Unverricht-Lundborg disease with cystatin B gene abnormalities.
PMID 20078424 2010 Intracellular aggregation of human stefin B: confocal and electron microscopy study.
PMID 16155205 2005 In vitro study of stability and amyloid-fibril formation of two mutants of human stefin B (cystatin B) occurring in patients with EPM1.
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 21757863 2011 We describe the clinical, cognitive and imaging characteristics of 5 Finnish EPM1 patients who are compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutations.
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 18028412 2008 Molecular background of EPM1-Unverricht-Lundborg disease.
PMID 22936898 2012 Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.
PMID 15329070 2004 Univerricht-Lundborg disease: underdiagnosed in the Netherlands.
PMID 18925453 2008 Size and morphology of toxic oligomers of amyloidogenic proteins: a case study of human stefin B.
PMID 9012407 1997 The 426G-->C change in exon 1 results in a Gly4Arg substitution and is the first missense mutation described that is associated with EPM1.