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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

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
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

The role of copy number variants in the genetic architecture of common familial epilepsies.
Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
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
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.
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
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.
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
Genetic association studies in epilepsy: "the truth is out there".
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

The role of copy number variants in the genetic architecture of common familial epilepsies.
Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
Genes4Epilepsy: An epilepsy gene resource.
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
Genomics in the presurgical epilepsy evaluation.
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
Recent advances in epilepsy genetics.
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
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
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

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
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
Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.
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

The role of copy number variants in the genetic architecture of common familial epilepsies.
Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
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
Genomics in the presurgical epilepsy evaluation.
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
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.
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
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
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

The role of copy number variants in the genetic architecture of common familial epilepsies.
Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
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
Identification and quantification of oligogenic loss-of-function disorders.
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
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C, Fusco C, Pisani F
Genes (Basel) 2021 Jul 28;12(8) doi: 10.3390/genes12081157. PMID: 34440332Free PMC Article
CACNA1H variants are not a cause of monogenic epilepsy.
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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      Receptors, Purinergic P2Y
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