Genetics of Epilepsy in the Era of Precision Medicine: Implications for Testing, Treatment, and Genetic Counseling
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/article/10.1007/s40142-018-0139-8/fulltext.html
Reference100 articles.
1. Fisher RS, Acevedo C, Arzimanoglou A, Bogacz A, Cross JH, Elger CE, et al. ILAE official report: a practical clinical definition of epilepsy. Epilepsia. 2014;55(4):475–82.
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(4):522–30.
3. • Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):512–21. This paper describes the revised classification of epilepsy types, etiologies and syndromes, incorprated increased recognition of genetic contribution.
4. Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 1995;11(2):201–3.
5. •• Epi4K Consortium. Epi4K: gene discovery in 4,000 genomes. Epilepsia. 2012;53(8):1457–67. This paper describes the collaborative efforts of an NINDS-funded “Center Without Walls” focused on the genetics of epilepsy.
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1. Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individuals;2022-12-09
2. Genetic testing for the epilepsies: A systematic review;Epilepsia;2021-12-10
3. Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families;Epilepsia Open;2021-01-19
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