1 results match your criteria: "China. songchengyuan@qiluhospital.com.[Affiliation]"
Identification of biallelic intronic EPM2A mutations in a Lafora disease kindred.
J Hum Genet
November 2024
Department of Neurology, Qilu Hospital of Shandong University, 250012, Jinan, China.
Article Synopsis
- Lafora disease (LD) is a serious genetic disorder leading to seizures, myoclonus, behavioral changes, and eventual dementia, caused primarily by mutations in the EPM2A and NHLRC1 genes.
- This study focuses on a patient with LD and identifies specific intronic mutations in EPM2A that impact mRNA splicing, leading to the disease's symptoms.
- The research highlights the importance of genetic testing in diagnosing LD and expands the understanding of how certain mutations in non-coding regions can contribute to the condition.