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Myoclonic epilepsy, juvenile, susceptibility to, 3(EJM3)

MedGen UID:
324732
•Concept ID:
C1837308
•
Disease or Syndrome
Synonyms: EJM3; EJM3-Related Juvenile Myoclonic Epilepsy; Myoclonic epilepsy, juvenile 3
 
Monarch Initiative: MONDO:0012134
OMIM®: 608816

Recent clinical studies

Etiology

Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.
Galli J, Micheletti S, Malerba L, Fazzi E, Giordano L
Seizure 2018 Oct;61:1-3. Epub 2018 Jul 18 doi: 10.1016/j.seizure.2018.07.009. PMID: 30029089
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
The quest for juvenile myoclonic epilepsy genes.
Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM
Epilepsy Behav 2013 Jul;28 Suppl 1:S52-7. doi: 10.1016/j.yebeh.2012.06.033. PMID: 23756480
Genetics of myoclonic and myoclonus epilepsies.
Minassian BA, Sainz J, Delgado-Escueta AV
Clin Neurosci 1995-1996;3(4):223-35. PMID: 8891396

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
Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
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
Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.
Galli J, Micheletti S, Malerba L, Fazzi E, Giordano L
Seizure 2018 Oct;61:1-3. Epub 2018 Jul 18 doi: 10.1016/j.seizure.2018.07.009. PMID: 30029089
Why do seizures in generalized epilepsy often occur in the morning?
Badawy RA, Macdonell RA, Jackson GD, Berkovic SF
Neurology 2009 Jul 21;73(3):218-22. doi: 10.1212/WNL.0b013e3181ae7ca6. PMID: 19620610

Therapy

Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.
Galli J, Micheletti S, Malerba L, Fazzi E, Giordano L
Seizure 2018 Oct;61:1-3. Epub 2018 Jul 18 doi: 10.1016/j.seizure.2018.07.009. PMID: 30029089
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
Juvenile myoclonic epilepsy starting in the eighth decade.
Tóth V, Rásonyi G, Fogarasi A, Kovács N, Auer T, Janszky J
Epileptic Disord 2007 Sep;9(3):341-5. Epub 2007 Sep 20 doi: 10.1684/epd.2007.0124. PMID: 17884761
Sudden unexplained death in epilepsy (SUDEP) following previous seizure-related pulmonary oedema: case report and review of possible preventative treatment.
Swallow RA, Hillier CE, Smith PE
Seizure 2002 Oct;11(7):446-8. doi: 10.1053/seiz.2002.0683. PMID: 12237072

Prognosis

Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Why do seizures in generalized epilepsy often occur in the morning?
Badawy RA, Macdonell RA, Jackson GD, Berkovic SF
Neurology 2009 Jul 21;73(3):218-22. doi: 10.1212/WNL.0b013e3181ae7ca6. PMID: 19620610
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
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
Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
BRD2 and TAP-1 genes and juvenile myoclonic epilepsy.
Layouni S, Buresi C, Thomas P, Malafosse A, Dogui M
Neurol Sci 2010 Feb;31(1):53-6. Epub 2009 Dec 2 doi: 10.1007/s10072-009-0190-z. PMID: 19953286
Why do seizures in generalized epilepsy often occur in the morning?
Badawy RA, Macdonell RA, Jackson GD, Berkovic SF
Neurology 2009 Jul 21;73(3):218-22. doi: 10.1212/WNL.0b013e3181ae7ca6. PMID: 19620610
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

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