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Epilepsy, juvenile myoclonic, susceptibility to, 6(EJM6)

MedGen UID:
442587
•Concept ID:
C2750888
•
Finding
Synonym: Epilepsy, juvenile myoclonic 6
 
Monarch Initiative: MONDO:0800271
OMIM®: 601949; 607682

Professional guidelines

PubMed

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
Lee CG, Lee J, Lee M
PLoS One 2018;13(6):e0199321. Epub 2018 Jun 20 doi: 10.1371/journal.pone.0199321. PMID: 29924869Free PMC Article

Recent clinical studies

Etiology

The unexpected role of copy number variations in juvenile myoclonic epilepsy.
Helbig I, Hartmann C, Mefford HC
Epilepsy Behav 2013 Jul;28 Suppl 1:S66-8. doi: 10.1016/j.yebeh.2012.07.005. PMID: 23756484
Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population.
Gitaí LL, de Almeida DH, Born JP, Gameleira FT, de Andrade TG, Machado LC, Gitaí DL
Neurol India 2012 Nov-Dec;60(6):585-8. doi: 10.4103/0028-3886.105191. PMID: 23287319
Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy.
Pal DK, Durner M, Klotz I, Dicker E, Shinnar S, Resor S, Cohen J, Harden C, Moshé SL, Ballaban-Gill K, Bromfield EB, Greenberg DA
Brain Dev 2006 Mar;28(2):92-8. Epub 2006 Jan 18 doi: 10.1016/j.braindev.2005.05.009. PMID: 16414227Free PMC Article
Genetics of myoclonic and myoclonus epilepsies.
Minassian BA, Sainz J, Delgado-Escueta AV
Clin Neurosci 1995-1996;3(4):223-35. PMID: 8891396
The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1".
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

Diagnosis

Structural insights of novel mutational frames in Bromodomain Containing-2 gene (BRD2) in juvenile myoclonic epilepsy: bed, bench, and laptop profiles.
Kothapalli J, Prasad Uppu V, Munikumar M, Kshirsagar SV, Afshan Jabeen S, Sivanarayana G
Epilepsy Behav 2023 Jul;144:109282. Epub 2023 Jun 3 doi: 10.1016/j.yebeh.2023.109282. PMID: 37276801
Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome.
Fanella M, Frascarelli M, Lambiase C, Morano A, Unolt M, Liberati N, Fattouch J, Buzzanca A, Accinni T, Ceccanti M, Viganò A, Biondi M, Colonnese C, Giallonardo AT, Di Fabio F, Pizzuti A, Di Bonaventura C, Berardelli A
J Med Genet 2020 Mar;57(3):151-159. Epub 2019 Sep 10 doi: 10.1136/jmedgenet-2019-106223. PMID: 31506323
Juvenile myoclonic epilepsy and narcolepsy: A series of three cases.
Joshi PA, Poduri A, Kothare SV
Epilepsy Behav 2015 Oct;51:163-5. Epub 2015 Aug 16 doi: 10.1016/j.yebeh.2015.07.030. PMID: 26283305
Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families.
Pinto D, de Haan GJ, Janssen GA, Boezeman EH, van Erp MG, Westland B, Witte J, Bader A, Halley DJ, Kasteleijn-Nolst Trenité DG, Lindhout D, Koeleman BP
Epilepsia 2004 Mar;45(3):211-7. doi: 10.1111/j.0013-9580.2004.36003.x. PMID: 15009221
Genetic influences on myoclonic and absence seizures.
Winawer MR, Rabinowitz D, Pedley TA, Hauser WA, Ottman R
Neurology 2003 Dec 9;61(11):1576-81. doi: 10.1212/wnl.61.11.1576. PMID: 14663045Free PMC Article

Therapy

Case-control pharmacogenetic study of HCN1/HCN2 variants and genetic generalized epilepsies.
Wu SZ, Ye H, Yang XG, Lu ZL, Qu Q, Qu J
Clin Exp Pharmacol Physiol 2018 Mar;45(3):226-233. Epub 2017 Nov 28 doi: 10.1111/1440-1681.12877. PMID: 29047147
GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.
Balan S, Sathyan S, Radha SK, Joseph V, Radhakrishnan K, Banerjee M
Pharmacogenet Genomics 2013 Nov;23(11):605-10. doi: 10.1097/FPC.0000000000000000. PMID: 24061200
Pattern-sensitive epilepsy: electroclinical characteristics, natural history, and delineation of the epileptic syndrome.
Radhakrishnan K, St Louis EK, Johnson JA, McClelland RL, Westmoreland BF, Klass DW
Epilepsia 2005 Jan;46(1):48-58. doi: 10.1111/j.0013-9580.2005.26604.x. PMID: 15660768
Immunological aspects of epilepsy.
Aarli JA
Brain Dev 1993 Jan-Feb;15(1):41-9. doi: 10.1016/0387-7604(93)90005-s. PMID: 8338210

Prognosis

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
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
Clinical and electroencephalographic study of first-degree relatives and probands with juvenile myoclonic epilepsy.
Jayalakshmi SS, Mohandas S, Sailaja S, Borgohain R
Seizure 2006 Apr;15(3):177-83. Epub 2006 Feb 21 doi: 10.1016/j.seizure.2005.12.011. PMID: 16495091
Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.
Norberg A, Forsgren L, Holmberg D, Holmberg M
Neurosci Lett 2006 Mar 27;396(2):137-42. Epub 2005 Dec 27 doi: 10.1016/j.neulet.2005.11.039. PMID: 16378686
Pattern-sensitive epilepsy: electroclinical characteristics, natural history, and delineation of the epileptic syndrome.
Radhakrishnan K, St Louis EK, Johnson JA, McClelland RL, Westmoreland BF, Klass DW
Epilepsia 2005 Jan;46(1):48-58. doi: 10.1111/j.0013-9580.2005.26604.x. PMID: 15660768
Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14.
Taske NL, Williamson MP, Makoff A, Bate L, Curtis D, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Chadwick D, Richens A, Covanis A, Santos M, Arzimanoglou A, Panayiotopoulos CP, Whitehouse WP, Rees M, Gardiner RM
Epilepsy Res 2002 Apr;49(2):157-72. doi: 10.1016/s0920-1211(02)00027-x. PMID: 12049804

Clinical prediction guides

Structural insights of novel mutational frames in Bromodomain Containing-2 gene (BRD2) in juvenile myoclonic epilepsy: bed, bench, and laptop profiles.
Kothapalli J, Prasad Uppu V, Munikumar M, Kshirsagar SV, Afshan Jabeen S, Sivanarayana G
Epilepsy Behav 2023 Jul;144:109282. Epub 2023 Jun 3 doi: 10.1016/j.yebeh.2023.109282. PMID: 37276801
Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
Santos BPD, Marinho CRM, Marques TEBS, Angelo LKG, Malta MVDS, Duzzioni M, Castro OW, Leite JP, Barbosa FT, Gitaí DLG
PLoS One 2017;12(6):e0179629. Epub 2017 Jun 21 doi: 10.1371/journal.pone.0179629. PMID: 28636645Free PMC Article
GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.
Balan S, Sathyan S, Radha SK, Joseph V, Radhakrishnan K, Banerjee M
Pharmacogenet Genomics 2013 Nov;23(11):605-10. doi: 10.1097/FPC.0000000000000000. PMID: 24061200
Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families.
Pinto D, de Haan GJ, Janssen GA, Boezeman EH, van Erp MG, Westland B, Witte J, Bader A, Halley DJ, Kasteleijn-Nolst Trenité DG, Lindhout D, Koeleman BP
Epilepsia 2004 Mar;45(3):211-7. doi: 10.1111/j.0013-9580.2004.36003.x. PMID: 15009221
Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.
Bai D, Alonso ME, Medina MT, Bailey JN, Morita R, Cordova S, Rasmussen A, Ramos-Peek J, Ochoa A, Jara A, Donnadieu FR, Cadena G, Yamakawa K, Delgado-Escueta AV
Am J Med Genet 2002 Dec 1;113(3):268-74. doi: 10.1002/ajmg.10724. PMID: 12439895

Recent systematic reviews

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
Santos BPD, Marinho CRM, Marques TEBS, Angelo LKG, Malta MVDS, Duzzioni M, Castro OW, Leite JP, Barbosa FT, Gitaí DLG
PLoS One 2017;12(6):e0179629. Epub 2017 Jun 21 doi: 10.1371/journal.pone.0179629. PMID: 28636645Free PMC Article

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