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Epilepsy, idiopathic generalized, susceptibility to, 11(EIG11)

MedGen UID:
416407
Concept ID:
C2750893
Finding
Synonyms: CLCN2-Related Juvenile Myoclonic Epilepsy; EIG11
 
Gene (location): CLCN2 (3q27.1)
 
Monarch Initiative: MONDO:0011875
OMIM®: 607628

Definition

Both juvenile myoclonic epilepsy and juvenile absence epilepsy are subtypes of idiopathic generalized epilepsy (EIG). For a general phenotypic description and a discussion of genetic heterogeneity of these disorders, see EIG1 (600669), EJM1 (254770), and EJA1 (607631). [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
Bilateral tonic-clonic seizure on awakening
MedGen UID:
335621
Concept ID:
C1847165
Disease or Syndrome
Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).
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.

Recent clinical studies

Etiology

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
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
Helbig I
Semin Neurol 2015 Jun;35(3):288-92. Epub 2015 Jun 10 doi: 10.1055/s-0035-1552922. PMID: 26060908
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
Elger CE, Helmstaedter C, Kurthen M
Lancet Neurol 2004 Nov;3(11):663-72. doi: 10.1016/S1474-4422(04)00906-8. PMID: 15488459

Diagnosis

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
Gloria-Bottini F, Lucarelli P, Saccucci P, Cozzoli E, Cerminara C, Curatolo P, Bottini E
Neuropediatrics 2008 Dec;39(6):357-8. Epub 2009 Jun 30 doi: 10.1055/s-0029-1202834. PMID: 19569003
Kaneko S, Okada M, Iwasa H, Yamakawa K, Hirose S
Neurosci Res 2002 Sep;44(1):11-30. doi: 10.1016/s0168-0102(02)00065-2. PMID: 12204289
Sander T, Peters C, Kämmer G, Samochowiec J, Zirra M, Mischke D, Ziegler A, Kaupmann K, Bettler B, Epplen JT, Riess O
Am J Med Genet 1999 Aug 20;88(4):305-10. doi: 10.1002/(sici)1096-8628(19990820)88:4<305::aid-ajmg5>3.0.co;2-x. PMID: 10402495
Doose H, Lunau H, Castiglione E, Waltz S
Neuropediatrics 1998 Oct;29(5):229-38. doi: 10.1055/s-2007-973567. PMID: 9810557

Therapy

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
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
Doose H, Lunau H, Castiglione E, Waltz S
Neuropediatrics 1998 Oct;29(5):229-38. doi: 10.1055/s-2007-973567. PMID: 9810557

Prognosis

Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW
Ann Neurol 2007 Dec;62(6):560-8. doi: 10.1002/ana.21169. PMID: 17696120
Elger CE, Helmstaedter C, Kurthen M
Lancet Neurol 2004 Nov;3(11):663-72. doi: 10.1016/S1474-4422(04)00906-8. PMID: 15488459
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
Doose H, Lunau H, Castiglione E, Waltz S
Neuropediatrics 1998 Oct;29(5):229-38. doi: 10.1055/s-2007-973567. PMID: 9810557

Clinical prediction guides

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
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciūte D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kälviäinen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB
Am J Hum Genet 2010 May 14;86(5):707-18. Epub 2010 Apr 15 doi: 10.1016/j.ajhg.2010.03.018. PMID: 20398883Free 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
Gloria-Bottini F, Lucarelli P, Saccucci P, Cozzoli E, Cerminara C, Curatolo P, Bottini E
Neuropediatrics 2008 Dec;39(6):357-8. Epub 2009 Jun 30 doi: 10.1055/s-0029-1202834. PMID: 19569003
Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW
Ann Neurol 2007 Dec;62(6):560-8. doi: 10.1002/ana.21169. PMID: 17696120

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