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Myoclonic epilepsy, juvenile, susceptibility to, 4(EJM4)

MedGen UID:
370067
Concept ID:
C1969656
Disease or Syndrome
Synonyms: EJM4; EJM4-Related Juvenile Myoclonic Epilepsy; Myoclonic epilepsy, juvenile 4
 
Monarch Initiative: MONDO:0012655
OMIM®: 611364

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.
EEG with polyspike wave complexes
MedGen UID:
867392
Concept ID:
C4021757
Finding
The presence of complexes of repetitive spikes and waves in EEG.
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

Jara-Prado A, Guerrero-Camacho JL, Ángeles-López QD, Ochoa-Morales A, Dávila-Ortiz de Montellano DJ, Ramírez-García MÁ, Breda-Yepes M, Durón RM, Delgado-Escueta AV, Barrios-González DA, Martínez-Juárez IE
Neurol Sci 2024 Apr;45(4):1635-1643. Epub 2023 Oct 25 doi: 10.1007/s10072-023-07124-w. PMID: 37875597
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
Born JP, Santos BP, Secolin R, Gameleira FT, Andrade TG, Machado LC, Gitaí LL, Gitaí DL
Arq Neuropsiquiatr 2015 Apr;73(4):289-92. Epub 2015 Apr 1 doi: 10.1590/0004-282X20150010. PMID: 25992517
Koepp MJ, Duncan JS
Curr Opin Neurol 2004 Aug;17(4):467-74. doi: 10.1097/01.wco.0000137539.91738.2b. PMID: 15247544
Minassian BA, Sainz J, Delgado-Escueta AV
Clin Neurosci 1995-1996;3(4):223-35. PMID: 8891396

Diagnosis

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
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
Sapio MR, Vessaz M, Thomas P, Genton P, Fricker LD, Salzmann A
PLoS One 2015;10(4):e0123180. Epub 2015 Apr 13 doi: 10.1371/journal.pone.0123180. PMID: 25875328Free PMC Article
Mangano S, Nardello R, Tripi G, Giordano G, Spitaleri C, Mangano GR, Fontana A
BMC Neurol 2013 May 24;13:48. doi: 10.1186/1471-2377-13-48. PMID: 23705971Free PMC Article
Koepp MJ, Duncan JS
Curr Opin Neurol 2004 Aug;17(4):467-74. doi: 10.1097/01.wco.0000137539.91738.2b. PMID: 15247544

Therapy

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
Sapio MR, Vessaz M, Thomas P, Genton P, Fricker LD, Salzmann A
PLoS One 2015;10(4):e0123180. Epub 2015 Apr 13 doi: 10.1371/journal.pone.0123180. PMID: 25875328Free PMC Article
Mangano S, Nardello R, Tripi G, Giordano G, Spitaleri C, Mangano GR, Fontana A
BMC Neurol 2013 May 24;13:48. doi: 10.1186/1471-2377-13-48. PMID: 23705971Free PMC Article
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

Prognosis

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
Sapio MR, Vessaz M, Thomas P, Genton P, Fricker LD, Salzmann A
PLoS One 2015;10(4):e0123180. Epub 2015 Apr 13 doi: 10.1371/journal.pone.0123180. PMID: 25875328Free PMC Article
Mangano S, Nardello R, Tripi G, Giordano G, Spitaleri C, Mangano GR, Fontana A
BMC Neurol 2013 May 24;13:48. doi: 10.1186/1471-2377-13-48. PMID: 23705971Free PMC Article
Sozmen V, Baybas S, Dirican A, Koksal A, Ozturk M
Eur Neurol 2011;65(1):4-9. Epub 2010 Nov 25 doi: 10.1159/000322125. PMID: 21109740
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

Clinical prediction guides

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
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
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
Born JP, Santos BP, Secolin R, Gameleira FT, Andrade TG, Machado LC, Gitaí LL, Gitaí DL
Arq Neuropsiquiatr 2015 Apr;73(4):289-92. Epub 2015 Apr 1 doi: 10.1590/0004-282X20150010. PMID: 25992517
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

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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