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Comment
. 2023 Feb;19(2):69-70.
doi: 10.1038/s41582-022-00756-0.

From precision diagnosis to precision treatment in epilepsy

Katrine M Johannesen  1   2
Affiliations
Comment

From precision diagnosis to precision treatment in epilepsy

Katrine M Johannesen. Nat Rev Neurol. 2023 Feb.
No abstract available

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Comment on

  • Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
    McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Chernuha V… See abstract for full author list ➔ McKnight D, et al. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.

References

    1. Helbig, I., Heinzen, E. L. & Mefford, H. C. Primer part 1 — the building blocks of epilepsy genetics. Epilepsia 57, 861–868 (2016). - DOI
    1. McKnight, D. et al. Genetic testing to inform epilepsy treatment management from an international study of clinical practice. JAMA Neurol. https://doi.org/10.1001/jamaneurol.2022.3651 (2022). - DOI
    1. Bayat, A. et al. Impact of genetic testing on therapeutic decision-making in childhood-onset epilepsies — a study in a tertiary epilepsy center. Neurotherapeutics 19, 1353–1367 (2022). - DOI
    1. Johannesen, K. M. et al. Utility of genetic testing for therapeutic decision-making in adults with epilepsy. Epilepsia 61, 1234–1239 (2020). - DOI
    1. de Lange, I. M. et al. Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes. Epilepsia 59, 1154–1165 (2018). - DOI

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