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Epilepsy, idiopathic generalized, susceptibility to, 7(EIG7)

MedGen UID:
442800
•Concept ID:
C2751729
•
Finding
Synonyms: EIG7; EJM2-Related Juvenile Myoclonic Epilepsy; Epilepsy, idiopathic generalized 7
 
Monarch Initiative: MONDO:0011491
OMIM®: 604827

Clinical features

From HPO
Myoclonus
MedGen UID:
10234
•Concept ID:
C0027066
•
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
See: Feature record | Search on this feature
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

Professional guidelines

PubMed

Haptoglobin HP2-2 genotype, alpha-thalassaemia and acute seizures in children living in a malaria-endemic area.
Idro R, Williams TN, Gwer S, Uyoga S, Macharia A, Opi H, Atkinson S, Maitland K, Kager PA, Kwiatkowski D, Neville BG, Newton CR
Epilepsy Res 2008 Oct;81(2-3):114-8. Epub 2008 Jun 12 doi: 10.1016/j.eplepsyres.2008.04.021. PMID: 18554871Free PMC Article

Recent clinical studies

Etiology

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
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
The clinical spectrum of familial and sporadic idiopathic generalized epilepsy.
Gesche J, Hjalgrim H, Rubboli G, Beier CP
Epilepsy Res 2020 Sep;165:106374. Epub 2020 Jun 1 doi: 10.1016/j.eplepsyres.2020.106374. PMID: 32554302
No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study.
Goodwin H, Curran N, Chioza B, Blower J, Nashef L, Asherson P, Makoff AJ
Epilepsy Res 2000 Mar;39(1):27-31. doi: 10.1016/s0920-1211(99)00096-0. PMID: 10690750
Mapping of genes predisposing to idiopathic generalized epilepsy.
Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel PI, Pandolfo M
Hum Mol Genet 1995 Jul;4(7):1201-7. doi: 10.1093/hmg/4.7.1201. PMID: 8528209

Diagnosis

Association of Alpha-Soluble NSF Attachment Protein with Epileptic Seizure.
Xi Z, Deng W, Wang L, Xiao F, Li J, Wang Z, Wang X, Mi X, Wang N, Wang X
J Mol Neurosci 2015 Nov;57(3):417-25. Epub 2015 Jul 9 doi: 10.1007/s12031-015-0596-4. PMID: 26156199
Photosensitivity in idiopathic generalized epilepsies.
Covanis A
Epilepsia 2005;46 Suppl 9:67-72. doi: 10.1111/j.1528-1167.2005.00315.x. PMID: 16302877
Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases.
Bisulli F, Tinuper P, Avoni P, Striano P, Striano S, d'Orsi G, Vignatelli L, Bagattin A, Scudellaro E, Florindo I, Nobile C, Tassinari CA, Baruzzi A, Michelucci R
Brain 2004 Jun;127(Pt 6):1343-52. Epub 2004 Apr 16 doi: 10.1093/brain/awh151. PMID: 15090473
Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
Doose H, Lunau H, Castiglione E, Waltz S
Neuropediatrics 1998 Oct;29(5):229-38. doi: 10.1055/s-2007-973567. PMID: 9810557
The benign occipital epilepsies of childhood: an overview of the idiopathic syndromes and of the relationship to migraine.
Andermann F, Zifkin B
Epilepsia 1998;39 Suppl 4:S9-23. doi: 10.1111/j.1528-1157.1998.tb05129.x. PMID: 9637589

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
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
The clinical spectrum of familial and sporadic idiopathic generalized epilepsy.
Gesche J, Hjalgrim H, Rubboli G, Beier CP
Epilepsy Res 2020 Sep;165:106374. Epub 2020 Jun 1 doi: 10.1016/j.eplepsyres.2020.106374. PMID: 32554302
Photosensitivity in idiopathic generalized epilepsies.
Covanis A
Epilepsia 2005;46 Suppl 9:67-72. doi: 10.1111/j.1528-1167.2005.00315.x. PMID: 16302877
Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
Doose H, Lunau H, Castiglione E, Waltz S
Neuropediatrics 1998 Oct;29(5):229-38. doi: 10.1055/s-2007-973567. PMID: 9810557

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
Familial risk of epilepsy: a population-based study.
Peljto AL, Barker-Cummings C, Vasoli VM, Leibson CL, Hauser WA, Buchhalter JR, Ottman R
Brain 2014 Mar;137(Pt 3):795-805. Epub 2014 Jan 26 doi: 10.1093/brain/awt368. PMID: 24468822Free PMC Article
Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases.
Bisulli F, Tinuper P, Avoni P, Striano P, Striano S, d'Orsi G, Vignatelli L, Bagattin A, Scudellaro E, Florindo I, Nobile C, Tassinari CA, Baruzzi A, Michelucci R
Brain 2004 Jun;127(Pt 6):1343-52. Epub 2004 Apr 16 doi: 10.1093/brain/awh151. PMID: 15090473
Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
Doose H, Lunau H, Castiglione E, Waltz S
Neuropediatrics 1998 Oct;29(5):229-38. doi: 10.1055/s-2007-973567. PMID: 9810557
The benign occipital epilepsies of childhood: an overview of the idiopathic syndromes and of the relationship to migraine.
Andermann F, Zifkin B
Epilepsia 1998;39 Suppl 4:S9-23. doi: 10.1111/j.1528-1157.1998.tb05129.x. PMID: 9637589

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
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
A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11.
Kinirons P, Verlaan DJ, Dubé MP, Poirier J, Deacon C, Lortie A, Clément JF, Desbiens R, Carmant L, Cieuta-Walti C, Shevell M, Rouleau GA, Cossette P
Am J Med Genet A 2008 Mar 1;146A(5):578-84. doi: 10.1002/ajmg.a.32139. PMID: 18241056
Mapping of genes predisposing to idiopathic generalized epilepsy.
Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel PI, Pandolfo M
Hum Mol Genet 1995 Jul;4(7):1201-7. doi: 10.1093/hmg/4.7.1201. PMID: 8528209

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