Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies
Author:
Funder
Ministarstvo Prosvete, Nauke i Tehnološkog Razvoja
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s40291-024-00720-2.pdf
Reference71 articles.
1. Zhang D, Liu X, Deng X. Genetic basis of pediatric epilepsy syndromes. Exp Ther Med. 2017;13:2129–33.
2. Fisher RS, Cross JH, French JA, Higurashi N, Hirsch E, Jansen FE, et al. Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE commission for classification and terminology. Epilepsia. 2017;58:522–30.
3. Krey I, Platzer K, Esterhuizen A, Berkovic SF, Helbig I, Hildebrand MS, et al. Current practice in diagnostic genetic testing of the epilepsies. Epileptic Disord. 2022;24:765–86.
4. Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, et al. Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure. 2018;59:132–40.
5. Graifman JL, Lippa NC, Mulhern MS, Bergner AL, Sands TT. Clinical utility of exome sequencing in a pediatric epilepsy cohort. Epilepsia. 2023;64:986–97.
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