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Epilepsy, idiopathic generalized, susceptibility to, 10(EIG10)

MedGen UID:
414062
Concept ID:
C2751603
Finding
Synonyms: Epilepsy, idiopathic generalized 10; GABRD-Related Juvenile Myoclonic Epilepsy
 
Gene (location): GABRD (1p36.33)
 
Monarch Initiative: MONDO:0013103
OMIM®: 613060

Definition

Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with EIG, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. [from OMIM]

Additional description

From MedlinePlus Genetics
Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.  https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy

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.
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.
Focal-onset seizure
MedGen UID:
199670
Concept ID:
C0751495
Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
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.
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.

Professional guidelines

PubMed

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
Patsalos PN
Epilepsia 2005;46 Suppl 9:140-8. doi: 10.1111/j.1528-1167.2005.00326.x. PMID: 16302888

Recent clinical studies

Etiology

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
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
Fanciulli M, Pasini E, Malacrida S, Striano P, Striano S, Michelucci R, Ottman R, Nobile C
Epilepsia 2014 Oct;55(10):1651-8. Epub 2014 Sep 19 doi: 10.1111/epi.12767. PMID: 25243798
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
Gross-Tsur V, Shinnar S
Epilepsia 1993;34 Suppl 1:S12-20. doi: 10.1111/j.1528-1157.1993.tb05901.x. PMID: 8462488

Diagnosis

Heyne HO, Pajuste FD, Wanner J, Daniel Onwuchekwa JI, Mägi R, Palotie A; FinnGen; Estonian Biobank research team, Kälviainen R, Daly MJ
Nat Commun 2024 Jul 25;15(1):6277. doi: 10.1038/s41467-024-50295-z. PMID: 39054313Free PMC Article
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
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
Marini C, King MA, Archer JS, Newton MR, Berkovic SF
J Neurol Neurosurg Psychiatry 2003 Feb;74(2):192-6. doi: 10.1136/jnnp.74.2.192. PMID: 12531947Free PMC Article
Gross-Tsur V, Shinnar S
Epilepsia 1993;34 Suppl 1:S12-20. doi: 10.1111/j.1528-1157.1993.tb05901.x. PMID: 8462488

Therapy

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
Meletti S, Ruggieri A, Avanzini P, Caramaschi E, Filippini M, Bergonzini P, Monti G, Vignoli A, Olivotto S, Mastrangelo M, Santucci M, Gobbi G, Veggiotti P, Vaudano AE
Epilepsia 2016 Jun;57(6):896-906. Epub 2016 Apr 19 doi: 10.1111/epi.13385. PMID: 27093945
Patsalos PN
Epilepsia 2005;46 Suppl 9:140-8. doi: 10.1111/j.1528-1167.2005.00326.x. PMID: 16302888
Marini C, King MA, Archer JS, Newton MR, Berkovic SF
J Neurol Neurosurg Psychiatry 2003 Feb;74(2):192-6. doi: 10.1136/jnnp.74.2.192. PMID: 12531947Free PMC Article

Prognosis

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
Badawy RA, Macdonell RA, Jackson GD, Berkovic SF
Neurology 2009 Jul 21;73(3):218-22. doi: 10.1212/WNL.0b013e3181ae7ca6. PMID: 19620610
Marini C, King MA, Archer JS, Newton MR, Berkovic SF
J Neurol Neurosurg Psychiatry 2003 Feb;74(2):192-6. doi: 10.1136/jnnp.74.2.192. PMID: 12531947Free PMC Article
Hahn A
Epileptic Disord 2000;2 Suppl 1:S11-7. PMID: 11231218
Ottman R, Lee JH, Risch N, Hauser WA, Susser M
Epilepsia 1996 Apr;37(4):353-61. doi: 10.1111/j.1528-1157.1996.tb00571.x. PMID: 8603640

Clinical prediction guides

Heyne HO, Pajuste FD, Wanner J, Daniel Onwuchekwa JI, Mägi R, Palotie A; FinnGen; Estonian Biobank research team, Kälviainen R, Daly MJ
Nat Commun 2024 Jul 25;15(1):6277. doi: 10.1038/s41467-024-50295-z. PMID: 39054313Free PMC Article
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
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
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
Sander T, Hildmann T, Janz D, Wienker TF, Neitzel H, Bianchi A, Bauer G, Sailer U, Berek K, Schmitz B
Ann Neurol 1995 Aug;38(2):210-7. doi: 10.1002/ana.410380213. PMID: 7654068

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