Variant: rs74315442 

    present in Gene: CSTB
    present in Chromosome: 21
    Position on Chromosome: 43774297
    Alleles of this Variant: G/A

rs74315442 in CSTB gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs74315442 in CSTB gene and Unverricht-Lundborg Syndrome 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 8596935 1996 Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)