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  • Epilepsy – Neurobiology and aetiology
  • Known genetic mutations and epilepsy syndromes

Known genetic mutations and epilepsy syndromes

Epilepsy

References:

1.Knowles JK, Helbig I, Metcalf CS, et al. Precision medicine for genetic epilepsy on the horizon: recent advances, present challenges, and suggestions for continued progress. Epilepsia 2022; 63 (10): 2461–2475.

2.Oliver KL, Scheffer IE, Bennett MF, et al. Genes4Epilepsy: an epilepsy gene resource. Epilepsia 2023; 64 (5): 1368–1375.

3.Demarest ST, Brooks-Kayal A. From molecules to medicines: the dawn of targeted therapies for genetic epilepsies. Nat Rev Neurol 2018; 14 (12): 735–745.

4.Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: an evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns 2023; 32 (2): 266–280.

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Published 26.11.2025
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