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Genetic testing and the phenotype of Polish patients with Unverricht-Lundborg disease (EPM1) - A cohort study.

Epilepsy & behavior : E&B - 1 Nov 2020

Bosak Magdalena, Sułek Anna, Łukasik Maria, Żak Amadeusz, Słowik Agnieszka, Lasek-Bal Anetta

Abstract excerpt

AIM OF THE STUDY: The aim of this study was to explore genetic findings and the phenotype in Polish patients with Unverricht-Lundborg disease (ULD). MATERIALS AND METHODS: We retrospectively evaluated mutations in the cystatin B (CSTB) gene and clinical presentation in a cohort of patients with ULD. The study population consisted of 19 (14 males) patients with genetically confirmed disease. RESULTS: Sixteen...

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PMID: 32920378
DOI: 10.1016/j.yebeh.2020.107439

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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