Associated Papers
Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB -Related Neurodevelopmental Disorders.
Abdel-Hamid MS et al.
Clinical Genetics, 2025
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
The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.
Singh S et al.
Cells, 2024
ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
Cameron JM et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2023
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Transposon clusters as substrates for aberrant splice-site activation.
Alvarez MEV et al.
Rna Biology, 2021
32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf
Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities.
Sanz P et al.
Expert Reviews in Molecular Medicine, 2020
Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy.
Matos L et al.
Genes, 2018
Characterization of a rare Unverricht-Lundborg disease mutation.
Duarte AJ et al.
Molecular Genetics and Metabolism Reports, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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
Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.
Pinto E et al.
Epilepsy Research, 2012
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