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Epilepsy, idiopathic generalized, susceptibility to, 14(EIG14)

MedGen UID:
903934
•Concept ID:
C4225245
•
Finding
Synonym: EIG14
 
Gene (location): SLC12A5 (20q13.12)
 
Monarch Initiative: MONDO:0014734
OMIM®: 616685

Clinical features

From HPO
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
3232
•Concept ID:
C0009952
•
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
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Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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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.
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Generalized myoclonic seizure
MedGen UID:
892704
•Concept ID:
C4021759
•
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
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Generalized non-motor (absence) seizure
MedGen UID:
1385688
•Concept ID:
C4316903
•
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
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Professional guidelines

PubMed

Properties of antiepileptic drugs in the treatment of idiopathic generalized epilepsies.
Patsalos PN
Epilepsia 2005;46 Suppl 9:140-8. doi: 10.1111/j.1528-1167.2005.00326.x. PMID: 16302888

Recent clinical studies

Etiology

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
Epilepsy and tobacco smoking: a cross-sectional study.
Torriani O, Vuilleumier F, Perneger T, Despland PA, Maeder M, Héritier-Barras AC, Vulliemoz S, Seeck M, Rossetti AO, Picard F
J Neurol 2016 Oct;263(10):2057-64. Epub 2016 Jul 14 doi: 10.1007/s00415-016-8228-7. PMID: 27416858
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
Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits.
Lee CC, Chou IC, Tsai CH, Wan L, Shu YA, Tsai Y, Li TC, Tsai FJ
J Clin Lab Anal 2007;21(2):67-70. doi: 10.1002/jcla.20155. PMID: 17385675Free PMC Article
Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies.
Sobetzko D, Sander T, Becker CM
Am J Med Genet 2001 Aug 8;105(6):534-8. doi: 10.1002/ajmg.1488. PMID: 11496371

Diagnosis

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
Epilepsy and tobacco smoking: a cross-sectional study.
Torriani O, Vuilleumier F, Perneger T, Despland PA, Maeder M, Héritier-Barras AC, Vulliemoz S, Seeck M, Rossetti AO, Picard F
J Neurol 2016 Oct;263(10):2057-64. Epub 2016 Jul 14 doi: 10.1007/s00415-016-8228-7. PMID: 27416858
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
Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.
Hochstenbach R, Buizer-Voskamp JE, Vorstman JA, Ophoff RA
Cytogenet Genome Res 2011;135(3-4):174-202. Epub 2011 Nov 2 doi: 10.1159/000332928. PMID: 22056632
Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits.
Lee CC, Chou IC, Tsai CH, Wan L, Shu YA, Tsai Y, Li TC, Tsai FJ
J Clin Lab Anal 2007;21(2):67-70. doi: 10.1002/jcla.20155. PMID: 17385675Free PMC Article

Therapy

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
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?
Mangano S, Nardello R, Tripi G, Giordano G, Spitaleri C, Mangano GR, Fontana A
BMC Neurol 2013 May 24;13:48. doi: 10.1186/1471-2377-13-48. PMID: 23705971Free PMC Article
Properties of antiepileptic drugs in the treatment of idiopathic generalized epilepsies.
Patsalos PN
Epilepsia 2005;46 Suppl 9:140-8. doi: 10.1111/j.1528-1167.2005.00326.x. PMID: 16302888
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

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
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE
Ann Neurol 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702. PMID: 23280796
Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.
Weber YG, Berger A, Bebek N, Maier S, Karafyllakes S, Meyer N, Fukuyama Y, Halbach A, Hikel C, Kurlemann G, Neubauer B, Osawa M, Püst B, Rating D, Saito K, Stephani U, Tauer U, Lehmann-Horn F, Jurkat-Rott K, Lerche H
Epilepsia 2004 Jun;45(6):601-9. doi: 10.1111/j.0013-9580.2004.48203.x. PMID: 15144424
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
Benign idiopathic partial epilepsy and brain lesion.
Stephani U, Doose H
Epilepsia 1999 Mar;40(3):373-6. doi: 10.1111/j.1528-1157.1999.tb00721.x. PMID: 10080522

Clinical prediction guides

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
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
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
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
Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.
Weber YG, Berger A, Bebek N, Maier S, Karafyllakes S, Meyer N, Fukuyama Y, Halbach A, Hikel C, Kurlemann G, Neubauer B, Osawa M, Püst B, Rating D, Saito K, Stephani U, Tauer U, Lehmann-Horn F, Jurkat-Rott K, Lerche H
Epilepsia 2004 Jun;45(6):601-9. doi: 10.1111/j.0013-9580.2004.48203.x. PMID: 15144424

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