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

CONCLUSIONS AND CLINICAL IMPLICATIONS: Genetic findings and the clinical picture of our patients with ULD were in accordance with available studies. The most common genetic defect underlying ULD was homozygosity for an unstable expansion of a dodecamer repeat in the CSTB gene. Patients with action or/and stimulus sensitive myoclonus or intractable myoclonus epilepsy, especially with onset in late childhood/adolescence should be screened for ULD. PMID: 32920378 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32920378?dopt=Abstract

Source: Epilepsy and Behaviour - September 9, 2020 Category: Neurology Authors: Bosak M, Sułek A, Łukasik M, Żak A, Słowik A, Lasek-Bal A Tags: Epilepsy Behav Source Type: research