1. A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration. Issue 4 (17th December 2021) Authors: Ain ul Batool, Syeda; Almatrafi, Ahmad; Fadhli, Fatima; Alluqmani, Majed; Sadia, ; Ali, Ghazanfar; Basit, Sulman Journal: American journal of medical genetics Issue: Volume 188:Issue 4(2022) Page Start: 1075 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗