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EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8(EJM8)

MedGen UID:
416408
•Concept ID:
C2750894
•
Finding
Synonyms: EJM8; Epilepsy, juvenile myoclonic 8
 
OMIM®: 600570; 607628

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

Cortical excitability in drug naive juvenile myoclonic epilepsy.
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
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?
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
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
Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.
Elmslie FV, Rees M, Williamson MP, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Chadwick D, Richens A, Covanis A, Santos M, Arzimanoglou A, Panayiotopoulos CP, Curtis D, Whitehouse WP, Gardiner RM
Hum Mol Genet 1997 Aug;6(8):1329-34. doi: 10.1093/hmg/6.8.1329. PMID: 9259280
Video game induced seizures.
Ferrie CD, De Marco P, Grünewald RA, Giannakodimos S, Panayiotopoulos CP
J Neurol Neurosurg Psychiatry 1994 Aug;57(8):925-31. doi: 10.1136/jnnp.57.8.925. PMID: 8057115Free PMC Article

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
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
Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.
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
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?
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
Video game induced seizures.
Ferrie CD, De Marco P, Grünewald RA, Giannakodimos S, Panayiotopoulos CP
J Neurol Neurosurg Psychiatry 1994 Aug;57(8):925-31. doi: 10.1136/jnnp.57.8.925. PMID: 8057115Free PMC Article

Therapy

Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.
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
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?
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
The sleep-deprived brain in normals and patients with juvenile myoclonic epilepsy: a perturbational approach to measuring cortical reactivity.
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
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

Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.
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
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?
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
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
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
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
Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.
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
Cortical excitability in drug naive juvenile myoclonic epilepsy.
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
The sleep-deprived brain in normals and patients with juvenile myoclonic epilepsy: a perturbational approach to measuring cortical reactivity.
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

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