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Epilepsy, juvenile myoclonic, susceptibility to, 10(EJM10)

MedGen UID:
1647781
Concept ID:
C4693613
Finding
Synonyms: EJM10; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10
 
Gene (location): CILK1 (6p12.1)
 
Monarch Initiative: MONDO:0060671
OMIM®: 617924

Definition

Juvenile myoclonic epilepsy-10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. The age of onset also shows great variability: some patients present in the first years of life, whereas other have onset of seizures in teenage years. EEG typically shows 3.5 to 5 Hz polyspike wave discharges. There is evidence of incomplete penetrance (summary by Bailey et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see 254770. [from OMIM]

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.
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
Pathak S, Miller J, Morris EC, Stewart WCL, Greenberg DA
Epilepsia 2018 May;59(5):1011-1019. Epub 2018 Apr 2 doi: 10.1111/epi.14058. PMID: 29608786Free PMC Article
Puri V, Sajan PM, Chowdhury V, Chaudhry N
Seizure 2013 Oct;22(8):662-9. Epub 2013 Jun 7 doi: 10.1016/j.seizure.2013.05.001. PMID: 23746624
Badawy RA, Macdonell RA, Jackson GD, Berkovic SF
Neurology 2009 Jul 21;73(3):218-22. doi: 10.1212/WNL.0b013e3181ae7ca6. PMID: 19620610
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

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
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
Cvetkovska E, Panov S, Kuzmanovski I
Seizure 2014 Nov;23(10):903-5. Epub 2014 Jul 23 doi: 10.1016/j.seizure.2014.07.011. PMID: 25108570
Badawy RA, Macdonell RA, Jackson GD, Berkovic SF
Neurology 2009 Jul 21;73(3):218-22. doi: 10.1212/WNL.0b013e3181ae7ca6. PMID: 19620610
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

Therapy

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
Del Felice A, Fiaschi A, Bongiovanni GL, Savazzi S, Manganotti P
Epilepsy Res 2011 Sep;96(1-2):123-31. Epub 2011 Jul 2 doi: 10.1016/j.eplepsyres.2011.05.015. PMID: 21726980
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
Aarli JA
Brain Dev 1993 Jan-Feb;15(1):41-9. doi: 10.1016/0387-7604(93)90005-s. PMID: 8338210

Prognosis

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
Badawy RA, Macdonell RA, Jackson GD, Berkovic SF
Neurology 2009 Jul 21;73(3):218-22. doi: 10.1212/WNL.0b013e3181ae7ca6. PMID: 19620610
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
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

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
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
Cvetkovska E, Panov S, Kuzmanovski I
Seizure 2014 Nov;23(10):903-5. Epub 2014 Jul 23 doi: 10.1016/j.seizure.2014.07.011. PMID: 25108570
Puri V, Sajan PM, Chowdhury V, Chaudhry N
Seizure 2013 Oct;22(8):662-9. Epub 2013 Jun 7 doi: 10.1016/j.seizure.2013.05.001. PMID: 23746624
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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