Precision medicine for developmental and epileptic encephalopathies in Africa: strategies for a resource-limited setting.
Alina Izabela Esterhuizen, Nicki Tiffin, Gillian Tracy Riordan, Marie Wessels, Richard Joseph Burman, Miriam C. Aziz, Jeffrey Dennis Calhoun, Jonathan Gunti, Ezra E. Amiri, Aishwarya Ramamurthy, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Tamara J. Bacus, , Gemma L. Carvill
The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.
Genetics in Medicine · Dec 8, 2022Peer-reviewedGenetic & Genomic Medicine