Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.

Alina I Esterhuizen,Nicki Tiffin, Gillian Riordan, Marie Wessels,Richard J Burman,Miriam C Aziz,Jeffrey D Calhoun,Jonathan Gunti,Ezra E Amiri,Aishwarya Ramamurthy,Michael J Bamshad,Heather C Mefford,Raj Ramesar,Jo M Wilmshurst,Gemma L Carvill

Genetics in medicine : official journal of the American College of Medical Genetics（2023）

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摘要

Our findings emphasize the importance of an early genetic diagnosis in DEE. We designed the Think-Genetics strategy for early recognition, appropriate interim management, and genetic testing for DEE in resource-constrained settings.

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关键词

DEE,Genetic epilepsy,Genetic testing,LMICs,South Africa

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