Genetic & Genomic MedicinemedRxivPreprint
A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia
Stijn V. Weckesser, Nataša Mišković, Mirja Thomsen…·Katja Lohmann
This study identifies a CAG repeat expansion in EP400 as a novel cause of spinocerebellar ataxia in Serbian patients, with an inverse correlation between repeat number and age at onset.
DOI 10.64898/2026.10.16.26365393