First report of SCN8A-related neurodevelopmental disorder and a case of SCN1A-related Dravet syndrome in Libya
Neurogenetic disorders remain genetically uncharacterized in many populations, including Libya. We report three Libyan patients from two consanguineous families with pathogenic variants in sodium channel genes. Two adult sisters (Patients 1 & 2) presented with global developmental delay and progress...
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| Huvudupphov: | , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
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Open Exploration Publishing Inc.
2025-12-01
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| Serie: | Exploration of Neuroscience |
| Ämnen: | |
| Länkar: | https://www.explorationpub.com/uploads/Article/A1006120/1006120.pdf |
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