Associated Papers
A novel c.116 - 117 del variant in Unverricht-Lundborg disease: first ULD report in large Chinese population and review of the pathogenetic variants in CSTB gene.
Miao P et al.
Acta Epileptologica, 2025
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
Canafoglia L et al.
Epilepsia, 2012
Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.
Polajnar M et al.
Frontiers in Molecular Neuroscience, 2012
Molecular background of EPM1-Unverricht-Lundborg disease.
Joensuu T et al.
Epilepsia, 2008
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
Joensuu T et al.
European Journal of Human Genetics : Ejhg, 2007
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