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Monogenic epilepsy

MedGen UID:
1842675
Concept ID:
C5680430
Disease or Syndrome
Synonym: Monogenic disease with epilepsy
 
Monarch Initiative: MONDO:0015653
Orphanet: ORPHA166472

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMonogenic epilepsy

Professional guidelines

PubMed

Mei D, Parrini E, Marini C, Guerrini R
Mol Diagn Ther 2017 Aug;21(4):357-373. doi: 10.1007/s40291-017-0257-0. PMID: 28197949

Recent clinical studies

Etiology

Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
International League Against Epilepsy Consortium on Complex Epilepsies
Nat Genet 2023 Sep;55(9):1471-1482. Epub 2023 Aug 31 doi: 10.1038/s41588-023-01485-w. PMID: 37653029Free PMC Article
Willimsky EK, Munzig A, Mayer K, Biskup S, Abicht A, Hoertnagel K, Voss HV, Klein HG, Rost I, Larsen LHG, Dahl HA, Hoelz H, Stuelpnagel CV, Borggraefe I
Neuropediatrics 2021 Apr;52(2):92-97. Epub 2020 Oct 21 doi: 10.1055/s-0040-1712488. PMID: 33086385
Xie H, Su W, Pei J, Zhang Y, Gao K, Li J, Ma X, Zhang Y, Wu X, Jiang Y
Epilepsy Res 2019 Aug;154:55-61. Epub 2019 Apr 22 doi: 10.1016/j.eplepsyres.2019.04.005. PMID: 31054517
Tan NC, Mulley JC, Berkovic SF
Epilepsia 2004 Nov;45(11):1429-42. doi: 10.1111/j.0013-9580.2004.22904.x. PMID: 15509244

Diagnosis

Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
Oliver KL, Scheffer IE, Bennett MF, Grinton BE, Bahlo M, Berkovic SF
Epilepsia 2023 May;64(5):1368-1375. Epub 2023 Mar 9 doi: 10.1111/epi.17547. PMID: 36808730Free PMC Article
Moloney PB, Dugan P, Widdess-Walsh P, Devinsky O, Delanty N
Epilepsy Res 2022 Aug;184:106951. Epub 2022 May 30 doi: 10.1016/j.eplepsyres.2022.106951. PMID: 35691218
Orsini A, Zara F, Striano P
Neurosci Lett 2018 Feb 22;667:4-9. Epub 2017 May 10 doi: 10.1016/j.neulet.2017.05.014. PMID: 28499889
Mei D, Parrini E, Marini C, Guerrini R
Mol Diagn Ther 2017 Aug;21(4):357-373. doi: 10.1007/s40291-017-0257-0. PMID: 28197949

Therapy

Mei D, Parrini E, Marini C, Guerrini R
Mol Diagn Ther 2017 Aug;21(4):357-373. doi: 10.1007/s40291-017-0257-0. PMID: 28197949
Delahaye-Duriez A, Srivastava P, Shkura K, Langley SR, Laaniste L, Moreno-Moral A, Danis B, Mazzuferi M, Foerch P, Gazina EV, Richards K, Petrou S, Kaminski RM, Petretto E, Johnson MR
Genome Biol 2016 Dec 13;17(1):245. doi: 10.1186/s13059-016-1097-7. PMID: 27955713Free PMC Article

Prognosis

Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
International League Against Epilepsy Consortium on Complex Epilepsies
Nat Genet 2023 Sep;55(9):1471-1482. Epub 2023 Aug 31 doi: 10.1038/s41588-023-01485-w. PMID: 37653029Free PMC Article
Moloney PB, Dugan P, Widdess-Walsh P, Devinsky O, Delanty N
Epilepsy Res 2022 Aug;184:106951. Epub 2022 May 30 doi: 10.1016/j.eplepsyres.2022.106951. PMID: 35691218
Xie H, Su W, Pei J, Zhang Y, Gao K, Li J, Ma X, Zhang Y, Wu X, Jiang Y
Epilepsy Res 2019 Aug;154:55-61. Epub 2019 Apr 22 doi: 10.1016/j.eplepsyres.2019.04.005. PMID: 31054517
Mei D, Parrini E, Marini C, Guerrini R
Mol Diagn Ther 2017 Aug;21(4):357-373. doi: 10.1007/s40291-017-0257-0. PMID: 28197949

Clinical prediction guides

Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
International League Against Epilepsy Consortium on Complex Epilepsies
Nat Genet 2023 Sep;55(9):1471-1482. Epub 2023 Aug 31 doi: 10.1038/s41588-023-01485-w. PMID: 37653029Free PMC Article
Stefanski A, Pérez-Palma E, Mrdjen M, McHugh M, Leu C, Lal D
Genet Med 2022 Mar;24(3):729-735. Epub 2021 Dec 3 doi: 10.1016/j.gim.2021.10.026. PMID: 34906500
Spagnoli C, Fusco C, Pisani F
Genes (Basel) 2021 Jul 28;12(8) doi: 10.3390/genes12081157. PMID: 34440332Free PMC Article
Calhoun JD, Huffman AM, Bellinski I, Kinsley L, Bachman E, Gerard E, Kearney JA, Carvill GL
Hum Mutat 2020 Jun;41(6):1138-1144. Epub 2020 Apr 14 doi: 10.1002/humu.24017. PMID: 32227660Free PMC Article

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