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Epilepsy, early-onset

MedGen UID:
1054723
Concept ID:
CN376792
Disease or Syndrome
Synonym: epilepsy, early-onset
 
Monarch Initiative: MONDO:0957599
OMIM® Phenotypic series: PS617290

Professional guidelines

PubMed

Haviland I, Daniels CI, Greene CA, Drew J, Love-Nichols JA, Swanson LC, Smith L, Nie DA, Benke T, Sheidley BR, Zhang B, Poduri A, Olson HE
Pediatr Neurol 2023 Jan;138:71-80. Epub 2022 Oct 26 doi: 10.1016/j.pediatrneurol.2022.10.006. PMID: 36403551Free PMC Article
Nabavi Nouri M, Zak M, Jain P, Whitney R
Pediatr Neurol 2022 Jan;126:11-19. Epub 2021 Sep 30 doi: 10.1016/j.pediatrneurol.2021.09.017. PMID: 34740132
Bayat A, Bayat M, Rubboli G, Møller RS
Genes (Basel) 2021 Jul 8;12(7) doi: 10.3390/genes12071051. PMID: 34356067Free PMC Article

Recent clinical studies

Etiology

Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Phan J, Ramos M, Soares T, Parmar MS
Oxid Med Cell Longev 2022;2022:7692215. Epub 2022 Oct 26 doi: 10.1155/2022/7692215. PMID: 36338344Free PMC Article
Putaala J
Continuum (Minneap Minn) 2020 Apr;26(2):386-414. doi: 10.1212/CON.0000000000000833. PMID: 32224758
Hebbar M, Mefford HC
F1000Res 2020;9 Epub 2020 Mar 12 doi: 10.12688/f1000research.21366.1. PMID: 32201576Free PMC Article
Wilson MP, Plecko B, Mills PB, Clayton PT
J Inherit Metab Dis 2019 Jul;42(4):629-646. Epub 2019 Mar 20 doi: 10.1002/jimd.12060. PMID: 30671974

Diagnosis

Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S
Lancet Neurol 2022 Jun;21(6):563-576. Epub 2022 Apr 25 doi: 10.1016/S1474-4422(22)00035-7. PMID: 35483386Free PMC Article
Talwar D, Hammer MF
Pediatr Neurol 2021 Sep;122:76-83. Epub 2021 Aug 3 doi: 10.1016/j.pediatrneurol.2021.06.011. PMID: 34353676
Pisani F, Spagnoli C, Falsaperla R, Nagarajan L, Ramantani G
Seizure 2021 Feb;85:48-56. Epub 2021 Jan 4 doi: 10.1016/j.seizure.2020.12.023. PMID: 33418166
Scheffer IE, Nabbout R
Epilepsia 2019 Dec;60 Suppl 3:S17-S24. doi: 10.1111/epi.16386. PMID: 31904117
Koch H, Weber YG
Epilepsy Behav 2019 Feb;91:90-93. Epub 2018 Jul 31 doi: 10.1016/j.yebeh.2018.06.010. PMID: 30076047

Therapy

Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Phan J, Ramos M, Soares T, Parmar MS
Oxid Med Cell Longev 2022;2022:7692215. Epub 2022 Oct 26 doi: 10.1155/2022/7692215. PMID: 36338344Free PMC Article
Golub V, Reddy DS
Adv Exp Med Biol 2021;1264:93-110. doi: 10.1007/978-3-030-57369-0_7. PMID: 33332006
Wilson MP, Plecko B, Mills PB, Clayton PT
J Inherit Metab Dis 2019 Jul;42(4):629-646. Epub 2019 Mar 20 doi: 10.1002/jimd.12060. PMID: 30671974
Devinsky O, Patel AD, Cross JH, Villanueva V, Wirrell EC, Privitera M, Greenwood SM, Roberts C, Checketts D, VanLandingham KE, Zuberi SM; GWPCARE3 Study Group
N Engl J Med 2018 May 17;378(20):1888-1897. doi: 10.1056/NEJMoa1714631. PMID: 29768152

Prognosis

Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Phan J, Ramos M, Soares T, Parmar MS
Oxid Med Cell Longev 2022;2022:7692215. Epub 2022 Oct 26 doi: 10.1155/2022/7692215. PMID: 36338344Free PMC Article
Pisani F, Spagnoli C, Falsaperla R, Nagarajan L, Ramantani G
Seizure 2021 Feb;85:48-56. Epub 2021 Jan 4 doi: 10.1016/j.seizure.2020.12.023. PMID: 33418166
Putaala J
Continuum (Minneap Minn) 2020 Apr;26(2):386-414. doi: 10.1212/CON.0000000000000833. PMID: 32224758
Hebbar M, Mefford HC
F1000Res 2020;9 Epub 2020 Mar 12 doi: 10.12688/f1000research.21366.1. PMID: 32201576Free PMC Article

Clinical prediction guides

Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C
Genet Med 2023 Aug;25(8):100885. Epub 2023 May 8 doi: 10.1016/j.gim.2023.100885. PMID: 37165955
Talwar D, Hammer MF
Pediatr Neurol 2021 Sep;122:76-83. Epub 2021 Aug 3 doi: 10.1016/j.pediatrneurol.2021.06.011. PMID: 34353676
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G
Brain 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. PMID: 34114611
Stefanski A, Calle-López Y, Leu C, Pérez-Palma E, Pestana-Knight E, Lal D
Epilepsia 2021 Jan;62(1):143-151. Epub 2020 Nov 17 doi: 10.1111/epi.16755. PMID: 33200402Free PMC Article
Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D
Epilepsia 2020 Mar;61(3):387-399. Epub 2020 Feb 23 doi: 10.1111/epi.16438. PMID: 32090326

Recent systematic reviews

Chen L, Yang W, Yang F, Yu Y, Xu T, Wang D, Zhao Q, Wu Q, Han Y
Epilepsy Behav 2024 Mar;152:109640. Epub 2024 Jan 31 doi: 10.1016/j.yebeh.2024.109640. PMID: 38301455
Misra S, Khan EI, Lam TT, Mazumder R, Gururangan K, Hickman LB, Goswami V, Funaro MC, Eldem E, Sansing LH, Sico JJ, Quinn TJ, Liebeskind DS, Montaner J, Kwan P, Mishra NK
Neurology 2023 Nov 27;101(22):e2243-e2256. doi: 10.1212/WNL.0000000000207749. PMID: 37550071Free PMC Article
Fang J, Tuo M, Ouyang K, Xu Y
J Clin Neurosci 2021 Jan;83:83-87. Epub 2020 Dec 15 doi: 10.1016/j.jocn.2020.11.023. PMID: 33339690
Stefanski A, Calle-López Y, Leu C, Pérez-Palma E, Pestana-Knight E, Lal D
Epilepsia 2021 Jan;62(1):143-151. Epub 2020 Nov 17 doi: 10.1111/epi.16755. PMID: 33200402Free PMC Article
Nevin SM, Wakefield CE, Schilstra CE, McGill BC, Bye A, Palmer EE
Epilepsy Behav 2020 Nov;112:107382. Epub 2020 Aug 24 doi: 10.1016/j.yebeh.2020.107382. PMID: 32854014

Supplemental Content

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    Clinical resources

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