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Epilepsy, idiopathic generalized, susceptibility to, 12(EIG12)

MedGen UID:
766773
•Concept ID:
C3553859
•
Finding
Synonym: EIG12
 
Gene (location): SLC2A1 (1p34.2)
 
Monarch Initiative: MONDO:0013919
OMIM®: 614847

Clinical features

From HPO
Bilateral tonic-clonic seizure
MedGen UID:
141670
•Concept ID:
C0494475
•
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genetics of epilepsy: The testimony of twins in the molecular era.
Vadlamudi L, Milne RL, Lawrence K, Heron SE, Eckhaus J, Keay D, Connellan M, Torn-Broers Y, Howell RA, Mulley JC, Scheffer IE, Dibbens LM, Hopper JL, Berkovic SF
Neurology 2014 Sep 16;83(12):1042-8. Epub 2014 Aug 8 doi: 10.1212/WNL.0000000000000790. PMID: 25107880Free PMC Article

Recent clinical studies

Etiology

Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G
Neurology 2024 Jan 23;102(2):e207945. Epub 2023 Dec 22 doi: 10.1212/WNL.0000000000207945. PMID: 38165337
Genetically Determined Chronic Low-Grade Inflammation and Hundreds of Health Outcomes in the UK Biobank and the FinnGen Population: A Phenome-Wide Mendelian Randomization Study.
Si S, Li J, Tewara MA, Xue F
Front Immunol 2021;12:720876. Epub 2021 Jul 27 doi: 10.3389/fimmu.2021.720876. PMID: 34386016Free PMC Article
Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.
Shi XY, Wang G, Li T, Li Z, Leo P, Liu Z, Wu G, Zhu H, Zhang Y, Li D, Gao L, Yang L, Wang W, Liao J, Wang J, Zhou S, Wang H, Li X, Gao J, Zhang L, Shu X, Li D, Li Y, Chen C, Zhang X, Partida GC, Lundberg M, Reutens D, Bartlett P, Brown MA, Zou LP, Xu H
EBioMedicine 2020 Jul;57:102840. Epub 2020 Jun 21 doi: 10.1016/j.ebiom.2020.102840. PMID: 32580138Free PMC Article
Pre- and post-dormitum epilepsies: idiopathic generalized epilepsies.
Zambrelli E, Canevini MP
Sleep Med 2011 Dec;12 Suppl 2:S17-21. doi: 10.1016/j.sleep.2011.10.006. PMID: 22136892
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T
Nat Genet 2009 Feb;41(2):160-2. Epub 2009 Jan 11 doi: 10.1038/ng.292. PMID: 19136953Free PMC Article

Diagnosis

Genetically Determined Chronic Low-Grade Inflammation and Hundreds of Health Outcomes in the UK Biobank and the FinnGen Population: A Phenome-Wide Mendelian Randomization Study.
Si S, Li J, Tewara MA, Xue F
Front Immunol 2021;12:720876. Epub 2021 Jul 27 doi: 10.3389/fimmu.2021.720876. PMID: 34386016Free PMC Article
Prevalence of idiopathic epilepsy among school children in Gharbia Governorate, Egypt.
Alshahawy AK, Darwish AH, Elsaid Shalaby S, Mawlana W
Brain Dev 2018 Apr;40(4):278-286. Epub 2017 Dec 30 doi: 10.1016/j.braindev.2017.12.009. PMID: 29295801
Shared loci for migraine and epilepsy on chromosomes 14q12-q23 and 12q24.2-q24.3.
Polvi A, Siren A, Kallela M, Rantala H, Artto V, Sobel EM, Palotie A, Lehesjoki AE, Wessman M
Neurology 2012 Jan 17;78(3):202-9. Epub 2012 Jan 4 doi: 10.1212/WNL.0b013e31823fcd87. PMID: 22218271Free PMC Article
Pre- and post-dormitum epilepsies: idiopathic generalized epilepsies.
Zambrelli E, Canevini MP
Sleep Med 2011 Dec;12 Suppl 2:S17-21. doi: 10.1016/j.sleep.2011.10.006. PMID: 22136892
Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families.
Pinto D, de Haan GJ, Janssen GA, Boezeman EH, van Erp MG, Westland B, Witte J, Bader A, Halley DJ, Kasteleijn-Nolst Trenité DG, Lindhout D, Koeleman BP
Epilepsia 2004 Mar;45(3):211-7. doi: 10.1111/j.0013-9580.2004.36003.x. PMID: 15009221

Therapy

Oligoepilepsy and lifelong seizure susceptibility in epilepsy with generalized tonic-clonic seizures alone: Experience at an adult tertiary center.
Peña-Ceballos J, Moloney PB, Kilbride RD, Naggar HE, Widdess-Walsh P, Delanty N
Epilepsy Res 2024 May;202:107362. Epub 2024 Apr 19 doi: 10.1016/j.eplepsyres.2024.107362. PMID: 38652996
Genetically Determined Chronic Low-Grade Inflammation and Hundreds of Health Outcomes in the UK Biobank and the FinnGen Population: A Phenome-Wide Mendelian Randomization Study.
Si S, Li J, Tewara MA, Xue F
Front Immunol 2021;12:720876. Epub 2021 Jul 27 doi: 10.3389/fimmu.2021.720876. PMID: 34386016Free PMC Article
Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.
Shi XY, Wang G, Li T, Li Z, Leo P, Liu Z, Wu G, Zhu H, Zhang Y, Li D, Gao L, Yang L, Wang W, Liao J, Wang J, Zhou S, Wang H, Li X, Gao J, Zhang L, Shu X, Li D, Li Y, Chen C, Zhang X, Partida GC, Lundberg M, Reutens D, Bartlett P, Brown MA, Zou LP, Xu H
EBioMedicine 2020 Jul;57:102840. Epub 2020 Jun 21 doi: 10.1016/j.ebiom.2020.102840. PMID: 32580138Free PMC Article
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium
Epilepsia 2013 Feb;54(2):256-64. Epub 2013 Jan 7 doi: 10.1111/epi.12078. PMID: 23294455
Clinical and electroencephalographic findings in early and late onset benign childhood epilepsy with occipital paroxysms.
Tsai ML, Lo HY, Chaou WT
Brain Dev 2001 Oct;23(6):401-5. doi: 10.1016/s0387-7604(01)00246-7. PMID: 11578851

Prognosis

Oligoepilepsy and lifelong seizure susceptibility in epilepsy with generalized tonic-clonic seizures alone: Experience at an adult tertiary center.
Peña-Ceballos J, Moloney PB, Kilbride RD, Naggar HE, Widdess-Walsh P, Delanty N
Epilepsy Res 2024 May;202:107362. Epub 2024 Apr 19 doi: 10.1016/j.eplepsyres.2024.107362. PMID: 38652996
Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism.
Frazier TW, Jaini R, Busch RM, Wolf M, Sadler T, Klaas P, Hardan AY, Martinez-Agosto JA, Sahin M, Eng C; Developmental Synaptopathies Consortium
Mol Autism 2021 Jan 28;12(1):5. doi: 10.1186/s13229-020-00406-6. PMID: 33509259Free PMC Article
Presence of epilepsy-associated variants in large exome databases.
Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG
J Neurogenet 2013 Jun;27(1-2):1-4. Epub 2013 Mar 25 doi: 10.3109/01677063.2013.772176. PMID: 23527921Free PMC Article
Pre- and post-dormitum epilepsies: idiopathic generalized epilepsies.
Zambrelli E, Canevini MP
Sleep Med 2011 Dec;12 Suppl 2:S17-21. doi: 10.1016/j.sleep.2011.10.006. PMID: 22136892
Clinical and electroencephalographic findings in early and late onset benign childhood epilepsy with occipital paroxysms.
Tsai ML, Lo HY, Chaou WT
Brain Dev 2001 Oct;23(6):401-5. doi: 10.1016/s0387-7604(01)00246-7. PMID: 11578851

Clinical prediction guides

Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G
Neurology 2024 Jan 23;102(2):e207945. Epub 2023 Dec 22 doi: 10.1212/WNL.0000000000207945. PMID: 38165337
Genetically Determined Chronic Low-Grade Inflammation and Hundreds of Health Outcomes in the UK Biobank and the FinnGen Population: A Phenome-Wide Mendelian Randomization Study.
Si S, Li J, Tewara MA, Xue F
Front Immunol 2021;12:720876. Epub 2021 Jul 27 doi: 10.3389/fimmu.2021.720876. PMID: 34386016Free PMC Article
Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.
Shi XY, Wang G, Li T, Li Z, Leo P, Liu Z, Wu G, Zhu H, Zhang Y, Li D, Gao L, Yang L, Wang W, Liao J, Wang J, Zhou S, Wang H, Li X, Gao J, Zhang L, Shu X, Li D, Li Y, Chen C, Zhang X, Partida GC, Lundberg M, Reutens D, Bartlett P, Brown MA, Zou LP, Xu H
EBioMedicine 2020 Jul;57:102840. Epub 2020 Jun 21 doi: 10.1016/j.ebiom.2020.102840. PMID: 32580138Free PMC Article
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium
Epilepsia 2013 Feb;54(2):256-64. Epub 2013 Jan 7 doi: 10.1111/epi.12078. PMID: 23294455
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T
Brain 2010 Jan;133(Pt 1):23-32. Epub 2009 Oct 20 doi: 10.1093/brain/awp262. PMID: 19843651Free PMC Article

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