Article
Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy.
Seizure - 1 Mar 2024
Ilyas Muhammad, Holzwarth Dorothea, Ishaq Rafaqat, Ali Yasir, Habiba Umme, Raja Asad Mehmood, Saeed Sadia, Abdullah Uzma, Khan Sadiq Noor, Ullah Ata, Raja Ghazala Kaukab, Baig Shahid Mehmood, Fazeli Walid, Kunz Wolfram S, Shaiq Pakeeza Arzoo
Abstract excerpt
BACKGROUND: Adequate glucose supply is essential for brain function, therefore hypoglycemic states may lead to seizures. Since blood glucose supply for brain is buffered by liver glycogen, an impairment of liver glycogen synthesis by mutations in the liver glycogen synthase gene (GYS2) might result in a substantial neurological involvement. Here, we describe the phenotypes of affected siblings of two families...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.