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Epilepsy, juvenile myoclonic, susceptibility to, 9(EJM9)

MedGen UID:
481962
•Concept ID:
C3280332
•
Finding
Synonyms: EJM9; Epilepsy, juvenile myoclonic 9
 
Monarch Initiative: MONDO:0013665
OMIM®: 614280

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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Talarico M, Fortunato F, Labalme A, Januel L, Chatron N, Sanlaville D, Sammarra I, Gagliardi M, Procopio R, Valentino P, Annesi G, Lesca G, Gambardella A
Epilepsia Open 2024 Jun;9(3):951-959. Epub 2024 Mar 27 doi: 10.1002/epi4.12920. PMID: 38544349Free PMC Article
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
Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study.
Esmail EH, Labib DM, Rabie WA
Acta Neurol Belg 2015 Sep;115(3):247-51. Epub 2014 Dec 7 doi: 10.1007/s13760-014-0400-1. PMID: 25481722
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
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

Diagnosis

Thalamic and cortical hyperexcitability in juvenile myoclonic epilepsy.
Assenza G, Lanzone J, Dubbioso R, Coppola A, Boscarino M, Ricci L, Insola A, Bilo L, Tombini M, Di Lazzaro V
Clin Neurophysiol 2020 Aug;131(8):2041-2046. Epub 2020 May 22 doi: 10.1016/j.clinph.2020.04.164. PMID: 32487476
Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy.
Torabian P, Dehestani M, Morshedi Rad D, Peiravi S, Aghaie-Hakkak M, Ashraf H
Arch Iran Med 2019 Sep 1;22(9):516-526. PMID: 31679374
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
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

Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy.
Torabian P, Dehestani M, Morshedi Rad D, Peiravi S, Aghaie-Hakkak M, Ashraf H
Arch Iran Med 2019 Sep 1;22(9):516-526. PMID: 31679374
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
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

Prognosis

Genetic association analysis of ATP binding cassette protein family reveals a novel association of ABCB1 genetic variants with epilepsy risk, but not with drug-resistance.
Balan S, Bharathan SP, Vellichiramal NN, Sathyan S, Joseph V, Radhakrishnan K, Banerjee M
PLoS One 2014;9(2):e89253. Epub 2014 Feb 21 doi: 10.1371/journal.pone.0089253. PMID: 24586633Free PMC Article
Frequency of epilepsies in family members of patients with different epileptic syndromes.
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
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
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

Clinical prediction guides

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Talarico M, Fortunato F, Labalme A, Januel L, Chatron N, Sanlaville D, Sammarra I, Gagliardi M, Procopio R, Valentino P, Annesi G, Lesca G, Gambardella A
Epilepsia Open 2024 Jun;9(3):951-959. Epub 2024 Mar 27 doi: 10.1002/epi4.12920. PMID: 38544349Free PMC Article
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
A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.
Gu W, Sander T, Heils A, Lenzen KP, Steinlein OK
Epilepsy Res 2005 Aug-Sep;66(1-3):91-8. doi: 10.1016/j.eplepsyres.2005.07.003. PMID: 16112844
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
Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type.
Durner M, Keddache MA, Tomasini L, Shinnar S, Resor SR, Cohen J, Harden C, Moshe SL, Rosenbaum D, Kang H, Ballaban-Gil K, Hertz S, Labar DR, Luciano D, Wallace S, Yohai D, Klotz I, Dicker E, Greenberg DA
Ann Neurol 2001 Mar;49(3):328-35. PMID: 11261507

Recent systematic reviews

Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy.
Torabian P, Dehestani M, Morshedi Rad D, Peiravi S, Aghaie-Hakkak M, Ashraf H
Arch Iran Med 2019 Sep 1;22(9):516-526. PMID: 31679374

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