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Epilepsy syndrome

MedGen UID:
1371141
Concept ID:
C4505072
Disease or Syndrome
Synonyms: Epileptic syndromes; Syndromic epilepsy
 
Monarch Initiative: MONDO:0015650
Orphanet: ORPHA166463

Definition

EPILEPTIC SEIZURES that are of similar type and age of onset and have other similar features (e.g., clinical course, EEG findings, genetic association and neuropathology). [from MeSH]

Professional guidelines

PubMed

Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Hon KL, Leung AKC, Torres AR
Recent Pat Inflamm Allergy Drug Discov 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. PMID: 29745347
Perucca P, Scheffer IE, Kiley M
Med J Aust 2018 Mar 19;208(5):226-233. doi: 10.5694/mja17.00951. PMID: 29540143

Recent clinical studies

Etiology

Perucca E, Perucca P, White HS, Wirrell EC
Lancet Neurol 2023 Aug;22(8):723-734. Epub 2023 Jun 20 doi: 10.1016/S1474-4422(23)00151-5. PMID: 37352888
Kanner AM, Bicchi MM
JAMA 2022 Apr 5;327(13):1269-1281. doi: 10.1001/jama.2022.3880. PMID: 35380580
Islam MP
Semin Pediatr Neurol 2021 Apr;37:100875. Epub 2021 Feb 11 doi: 10.1016/j.spen.2021.100875. PMID: 33892851
Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, Hirsch E, Jain S, Mathern GW, Moshé SL, Nordli DR, Perucca E, Tomson T, Wiebe S, Zhang YH, Zuberi SM
Epilepsia 2017 Apr;58(4):512-521. Epub 2017 Mar 8 doi: 10.1111/epi.13709. PMID: 28276062Free PMC Article
Fisher RS, Acevedo C, Arzimanoglou A, Bogacz A, Cross JH, Elger CE, Engel J Jr, Forsgren L, French JA, Glynn M, Hesdorffer DC, Lee BI, Mathern GW, Moshé SL, Perucca E, Scheffer IE, Tomson T, Watanabe M, Wiebe S
Epilepsia 2014 Apr;55(4):475-82. Epub 2014 Apr 14 doi: 10.1111/epi.12550. PMID: 24730690

Diagnosis

Wirrell E
Continuum (Minneap Minn) 2022 Apr 1;28(2):230-260. doi: 10.1212/CON.0000000000001074. PMID: 35393959
Kanner AM, Bicchi MM
JAMA 2022 Apr 5;327(13):1269-1281. doi: 10.1001/jama.2022.3880. PMID: 35380580
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Pack AM
Continuum (Minneap Minn) 2019 Apr;25(2):306-321. doi: 10.1212/CON.0000000000000707. PMID: 30921011
Fisher RS, Acevedo C, Arzimanoglou A, Bogacz A, Cross JH, Elger CE, Engel J Jr, Forsgren L, French JA, Glynn M, Hesdorffer DC, Lee BI, Mathern GW, Moshé SL, Perucca E, Scheffer IE, Tomson T, Watanabe M, Wiebe S
Epilepsia 2014 Apr;55(4):475-82. Epub 2014 Apr 14 doi: 10.1111/epi.12550. PMID: 24730690

Therapy

Perucca E, Perucca P, White HS, Wirrell EC
Lancet Neurol 2023 Aug;22(8):723-734. Epub 2023 Jun 20 doi: 10.1016/S1474-4422(23)00151-5. PMID: 37352888
Kanner AM, Bicchi MM
JAMA 2022 Apr 5;327(13):1269-1281. doi: 10.1001/jama.2022.3880. PMID: 35380580
Lagae L
Curr Opin Neurol 2021 Apr 1;34(2):213-218. doi: 10.1097/WCO.0000000000000902. PMID: 33395108
Samanta D
Pediatr Neurol 2020 Apr;105:3-9. Epub 2019 Nov 30 doi: 10.1016/j.pediatrneurol.2019.10.009. PMID: 32057594
Perucca P, Scheffer IE, Kiley M
Med J Aust 2018 Mar 19;208(5):226-233. doi: 10.5694/mja17.00951. PMID: 29540143

Prognosis

Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S
Epilepsia 2022 Jun;63(6):1398-1442. Epub 2022 May 3 doi: 10.1111/epi.17241. PMID: 35503717
Wirrell E
Continuum (Minneap Minn) 2022 Apr 1;28(2):230-260. doi: 10.1212/CON.0000000000001074. PMID: 35393959
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Lagae L
Curr Opin Neurol 2021 Apr 1;34(2):213-218. doi: 10.1097/WCO.0000000000000902. PMID: 33395108
Sculier C, Gaspard N
Seizure 2019 May;68:72-78. Epub 2018 Sep 29 doi: 10.1016/j.seizure.2018.09.018. PMID: 30482654

Clinical prediction guides

Benghanem S, Robieux EP, Neligan A, Walker MC
Curr Opin Crit Care 2024 Apr 1;30(2):131-141. Epub 2024 Feb 13 doi: 10.1097/MCC.0000000000001137. PMID: 38441162
Kanner AM, Bicchi MM
JAMA 2022 Apr 5;327(13):1269-1281. doi: 10.1001/jama.2022.3880. PMID: 35380580
Lattanzi S, Leitinger M, Rocchi C, Salvemini S, Matricardi S, Brigo F, Meletti S, Trinka E
Eur J Neurol 2022 Feb;29(2):626-647. Epub 2021 Nov 2 doi: 10.1111/ene.15149. PMID: 34661330Free PMC Article
Symonds JD, Elliott KS, Shetty J, Armstrong M, Brunklaus A, Cutcutache I, Diver LA, Dorris L, Gardiner S, Jollands A, Joss S, Kirkpatrick M, McLellan A, MacLeod S, O'Regan M, Page M, Pilley E, Pilz DT, Stephen E, Stewart K, Ashrafian H, Knight JC, Zuberi SM
Brain 2021 Oct 22;144(9):2879-2891. doi: 10.1093/brain/awab162. PMID: 34687210Free PMC Article
Kessler SK, McGinnis E
Paediatr Drugs 2019 Feb;21(1):15-24. doi: 10.1007/s40272-019-00325-x. PMID: 30734897Free PMC Article

Recent systematic reviews

Jiang T, Zhang X, Zhang M, Liu M, Zhu H, Sun Y
Epilepsy Behav 2023 Sep;146:109364. Epub 2023 Jul 29 doi: 10.1016/j.yebeh.2023.109364. PMID: 37523796
Talwar A, Estes E, Aparasu R, Reddy DS
Exp Neurol 2023 Jan;359:114238. Epub 2022 Oct 4 doi: 10.1016/j.expneurol.2022.114238. PMID: 36206805
Lattanzi S, Leitinger M, Rocchi C, Salvemini S, Matricardi S, Brigo F, Meletti S, Trinka E
Eur J Neurol 2022 Feb;29(2):626-647. Epub 2021 Nov 2 doi: 10.1111/ene.15149. PMID: 34661330Free PMC Article
Lamberink HJ, Otte WM, Geerts AT, Pavlovic M, Ramos-Lizana J, Marson AG, Overweg J, Sauma L, Specchio LM, Tennison M, Cardoso TMO, Shinnar S, Schmidt D, Geleijns K, Braun KPJ
Lancet Neurol 2017 Jul;16(7):523-531. Epub 2017 May 5 doi: 10.1016/S1474-4422(17)30114-X. PMID: 28483337
Hancock EC, Osborne JP, Edwards SW
Cochrane Database Syst Rev 2013 Jun 5;(6):CD001770. doi: 10.1002/14651858.CD001770.pub3. PMID: 23740534

Supplemental Content

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    Clinical resources

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