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Idiopathic generalized epilepsy(EIG)

MedGen UID:
75725
Concept ID:
C0270850
Disease or Syndrome
Synonyms: EIG
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Primary generalized epilepsy (36803009); Idiopathic generalized epilepsy (36803009)
 
Gene: ME2
Cytogenetic locations: 18q21.2; 8q24
OMIM: 600669

Definition

Idiopathic generalized epilepsy is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA; see 600131), juvenile absence epilepsy (JAE, EJA; see 607631), juvenile myoclonic epilepsy (JME, EJM; see 254770), and epilepsy with grand mal seizures on awakening (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). These recurrent seizures occur in the absence of detectable brain lesions and/or metabolic abnormalities. Seizures are initially generalized with a bilateral, synchronous, generalized, symmetrical EEG discharge (Zara et al., 1995; Lu and Wang, 2009). See also childhood absence epilepsy (ECA1; 600131), which has also been mapped to 8q24. Of note, benign neonatal epilepsy 2 (EBN2; 121201) is caused by mutation in the KCNQ3 gene (602232) on 8q24. Genetic Heterogeneity of Idiopathic Generalized Epilepsy EIG1 has been mapped to chromosome 8q24. Other loci or genes associated with EIG include EIG2 (606972) on 14q23; EIG3 (608762) on 9q32; EIG4 (609750) on 10q25; EIG5 (611934) on 10p11; EIG6 (611942), caused by mutation in the CACNA1H gene (607904) on 16p; EIG7 (604827) on 15q14; EIG8 (612899), caused by mutation in the CASR gene (601199) on 3q13.3-q21; EIG9 (607682), caused by mutation in the CACNB4 gene (601949) on 2q22-q23; EIG10 (613060), caused by mutation in the GABRD gene (137163) on 1p36.3; EIG11 (607628), caused by variation in the CLCN2 gene (600570) on 3q36; and EIG12 (614847), caused by mutation in the SLC2A1 gene (138140) on 1p34. [from OMIM]

Clinical features

Generalized tonic-clonic seizures
MedGen UID:
505078
Concept ID:
CN001871
Finding
Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena.
Absence seizures
MedGen UID:
505114
Concept ID:
CN001921
Finding
Recurrent absence seizures are `generalized seizures` (HP:0002197) and are characterized by a loss of consciousness, thus, are a form of `dialeptic seizures` (HP:0011146).
Generalized myoclonic seizures
MedGen UID:
505115
Concept ID:
CN001923
Finding
Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal).
EEG with spike-wave complexes (>3.5 Hz)
MedGen UID:
451166
Concept ID:
CN116583
Finding
The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).

Recent clinical studies

Etiology

Kim JB, Suh SI, Seo WK, Oh K, Koh SB, Kim JH
Epilepsia 2014 Apr;55(4):592-600. Epub 2014 Mar 20 doi: 10.1111/epi.12580. [Epub ahead of print] PMID: 24650142
Rozycka A, Dorszewska J, Steinborn B, Lianeri M, Winczewska-Wiktor A, Sniezawska A, Wisniewska K, Jagodzinski PP
DNA Cell Biol 2013 Nov;32(11):640-7. Epub 2013 Sep 11 doi: 10.1089/dna.2012.1880. [Epub ahead of print] PMID: 24024466Free PMC Article
Sarkis RA, Pietras AC, Cheung A, Baslet G, Dworetzky B
Epilepsy Behav 2013 Sep;28(3):370-3. Epub 2013 Jul 3 doi: 10.1016/j.yebeh.2013.05.020. [Epub ahead of print] PMID: 23832134
Kim JH, Kim JB, Seo WK, Suh SI, Koh SB
J Neurol 2013 Jul;260(7):1846-54. Epub 2013 Mar 20 doi: 10.1007/s00415-013-6891-5. [Epub ahead of print] PMID: 23512576
Kay BP, DiFrancesco MW, Privitera MD, Gotman J, Holland SK, Szaflarski JP
Epilepsia 2013 Mar;54(3):461-70. Epub 2013 Jan 7 doi: 10.1111/epi.12057. [Epub ahead of print] PMID: 23293853Free PMC Article

Diagnosis

Kim JB, Suh SI, Seo WK, Oh K, Koh SB, Kim JH
Epilepsia 2014 Apr;55(4):592-600. Epub 2014 Mar 20 doi: 10.1111/epi.12580. [Epub ahead of print] PMID: 24650142
Strigaro G, Prandi P, Varrasi C, Magistrelli L, Falletta L, Cantello R
Epilepsy Res 2013 Mar;104(1-2):78-83. Epub 2012 Sep 15 doi: 10.1016/j.eplepsyres.2012.08.009. [Epub ahead of print] PMID: 22986001
Seneviratne U, Cook M, D'Souza W
Epilepsia 2012 Dec;53(12):2079-90. Epub 2012 Oct 25 doi: 10.1111/j.1528-1167.2012.03723.x. [Epub ahead of print] PMID: 23106474
Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormack M, Radtke RA, O'Conner GD, Mikati MA, Gallentine WB, Husain AM, Sinha SR, Chinthapalli K, Puranam RS, McNamara JO, Ottman R, Sisodiya SM, Delanty N, Goldstein DB
Am J Hum Genet 2012 Aug 10;91(2):293-302. Epub 2012 Aug 2 doi: 10.1016/j.ajhg.2012.06.016. [Epub ahead of print] PMID: 22863189Free PMC Article
Sakakibara E, Nishida T, Sugishita K, Jinde S, Inoue Y, Kasai K
Epilepsy Behav 2012 Jul;24(3):373-6. Epub 2012 May 29 doi: 10.1016/j.yebeh.2012.04.127. [Epub ahead of print] PMID: 22652424

Therapy

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. [Epub ahead of print] PMID: 23294455
Kay BP, DiFrancesco MW, Privitera MD, Gotman J, Holland SK, Szaflarski JP
Epilepsia 2013 Mar;54(3):461-70. Epub 2013 Jan 7 doi: 10.1111/epi.12057. [Epub ahead of print] PMID: 23293853Free PMC Article
Strigaro G, Prandi P, Varrasi C, Magistrelli L, Falletta L, Cantello R
Epilepsy Res 2013 Mar;104(1-2):78-83. Epub 2012 Sep 15 doi: 10.1016/j.eplepsyres.2012.08.009. [Epub ahead of print] PMID: 22986001
Beydoun A, D'Souza J
Expert Opin Pharmacother 2012 Jun;13(9):1283-98. Epub 2012 May 9 doi: 10.1517/14656566.2012.685162. [Epub ahead of print] PMID: 22568658
Deng S, Luo R, Mao M, Huang L
Int J Clin Pharmacol Ther 2012 Apr;50(4):300-1. PMID: 22456301

Prognosis

Kim JB, Suh SI, Seo WK, Oh K, Koh SB, Kim JH
Epilepsia 2014 Apr;55(4):592-600. Epub 2014 Mar 20 doi: 10.1111/epi.12580. [Epub ahead of print] PMID: 24650142
Seneviratne U, Cook M, D'Souza W
Epilepsia 2012 Dec;53(12):2079-90. Epub 2012 Oct 25 doi: 10.1111/j.1528-1167.2012.03723.x. [Epub ahead of print] PMID: 23106474
Zhang Z, Liao W, Chen H, Mantini D, Ding JR, Xu Q, Wang Z, Yuan C, Chen G, Jiao Q, Lu G
Brain 2011 Oct;134(Pt 10):2912-28. doi: 10.1093/brain/awr223. PMID: 21975588
Radhakrishnan A, Menon RN, Radhakrishnan K
Epilepsy Res 2011 Sep;96(1-2):151-7. Epub 2011 Jun 12 doi: 10.1016/j.eplepsyres.2011.05.016. [Epub ahead of print] PMID: 21665438
Pavlović M, Jović N, Pekmezović T
Seizure 2011 Sep;20(7):520-5. Epub 2011 Apr 13 doi: 10.1016/j.seizure.2011.03.007. [Epub ahead of print] PMID: 21493107

Clinical prediction guides

Rozycka A, Dorszewska J, Steinborn B, Lianeri M, Winczewska-Wiktor A, Sniezawska A, Wisniewska K, Jagodzinski PP
DNA Cell Biol 2013 Nov;32(11):640-7. Epub 2013 Sep 11 doi: 10.1089/dna.2012.1880. [Epub ahead of print] PMID: 24024466Free PMC Article
Sarkis RA, Pietras AC, Cheung A, Baslet G, Dworetzky B
Epilepsy Behav 2013 Sep;28(3):370-3. Epub 2013 Jul 3 doi: 10.1016/j.yebeh.2013.05.020. [Epub ahead of print] PMID: 23832134
Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium
Epilepsia 2013 Feb;54(2):265-71. Epub 2013 Jan 25 doi: 10.1111/epi.12084. [Epub ahead of print] PMID: 23350840
Seneviratne U, Cook M, D'Souza W
Epilepsia 2012 Dec;53(12):2079-90. Epub 2012 Oct 25 doi: 10.1111/j.1528-1167.2012.03723.x. [Epub ahead of print] PMID: 23106474
Zhang Z, Liao W, Chen H, Mantini D, Ding JR, Xu Q, Wang Z, Yuan C, Chen G, Jiao Q, Lu G
Brain 2011 Oct;134(Pt 10):2912-28. doi: 10.1093/brain/awr223. PMID: 21975588

Recent systematic reviews

Aneja S, Sharma S
Indian Pediatr 2013 Nov 8;50(11):1033-40. PMID: 24382900
Verrotti A, Matricardi S, Pavone P, Marino R, Curatolo P
Epileptic Disord 2013 Jun;15(2):114-22. doi: 10.1684/epd.2013.0584. PMID: 23770486
Haerian BS, Baum L
Seizure 2013 Jan;22(1):53-8. Epub 2012 Nov 7 doi: 10.1016/j.seizure.2012.10.007. [Epub ahead of print] PMID: 23140995
Haerian BS, Baum L, Tan HJ, Kwan P, Raymond AA, Saruwatari J, Nakagawa K, Mohamed Z
Pharmacogenomics 2012 Oct;13(13):1477-85. doi: 10.2217/pgs.12.127. PMID: 23057548
Beydoun A, D'Souza J
Expert Opin Pharmacother 2012 Jun;13(9):1283-98. Epub 2012 May 9 doi: 10.1517/14656566.2012.685162. [Epub ahead of print] PMID: 22568658

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