Juvenile myoclonic epilepsy (English Wikipedia)

Janz D, Christian W (1994). "Impulsive petit mal". In Malafosse A (ed.). Idiopathic Generalized Epilepsies: Clinical, Experimental and Genetic Aspects. John Libbey Eurotext. pp. 229–51. ISBN 978-0-86196-436-9.

doi.org

Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. (April 2017). "ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology". Epilepsia. 58 (4): 512–521. doi:10.1111/epi.13709. PMC 5386840. PMID 28276062.
Panayiotopoulos CP, Obeid T, Tahan AR (1994). "Juvenile myoclonic epilepsy: a 5-year prospective study". Epilepsia. 35 (2): 285–296. doi:10.1111/j.1528-1157.1994.tb02432.x. PMID 8156946. S2CID 2840926.
Camfield CS, Striano P, Camfield PR (1 July 2013). "Epidemiology of juvenile myoclonic epilepsy". Epilepsy & Behavior. 28 (Suppl 1): S15 – S17. doi:10.1016/j.yebeh.2012.06.024. PMID 23756473. S2CID 27904623.
Syvertsen M, Hellum MK, Hansen G, Edland A, Nakken KO, Selmer KK, Koht J (January 2017). "Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway". Epilepsia. 58 (1): 105–112. doi:10.1111/epi.13613. PMID 27861775. S2CID 46366621.
Gilsoul M, Grisar T, Delgado-Escueta AV, de Nijs L, Lakaye B (2019). "Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy". Frontiers in Cellular Neuroscience. 13: 433. doi:10.3389/fncel.2019.00433. PMC 6776584. PMID 31611775.
Kasteleijn-Nolst Trenité DG, de Weerd A, Beniczky S (July 2013). "Chronodependency and provocative factors in juvenile myoclonic epilepsy". Epilepsy & Behavior. 28 (Suppl 1): S25 – S29. doi:10.1016/j.yebeh.2012.11.045. PMID 23756476. S2CID 40326663.
Striano, Pasquale; Nobile, Carlo (2018-06-01). "The genetic basis of juvenile myoclonic epilepsy". Lancet Neurology. 17 (6): 493–495. doi:10.1016/S1474-4422(18)30173-X. ISSN 1474-4465. PMID 29778354. S2CID 29164052.
Jallon, Pierre; Latour, Patrick (2005). "Epidemiology of idiopathic generalized epilepsies". Epilepsia. 46 Suppl 9: 10–14. doi:10.1111/j.1528-1167.2005.00309.x. ISSN 0013-9580. PMID 16302871. S2CID 15708523.
Camfield, Carol S.; Camfield, Peter R. (2009-09-29). "Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study". Neurology. 73 (13): 1041–1045. doi:10.1212/WNL.0b013e3181b9c86f. ISSN 1526-632X. PMID 19786695. S2CID 24296234.
Wirrell, E. C.; Camfield, C. S.; Camfield, P. R.; Gordon, K. E.; Dooley, J. M. (1996-10-01). "Long-term prognosis of typical childhood absence epilepsy: Remission or progression to juvenile myoclonic epilepsy". Neurology. 47 (4): 912–918. doi:10.1212/wnl.47.4.912. ISSN 0028-3878. PMID 8857718. S2CID 23058713.
Yacubian EM (1 January 2017). "Juvenile myoclonic epilepsy: Challenges on its 60th anniversary". Seizure. 44: 48–52. doi:10.1016/j.seizure.2016.09.005. PMID 27665373. S2CID 4930675.
Genton, Pierre; Thomas, Pierre; Kasteleijn-Nolst Trenité, Dorothee G. A.; Medina, Marco Tulio; Salas-Puig, Javier (2013-07-01). "Clinical aspects of juvenile myoclonic epilepsy". Epilepsy & Behavior. 28 Suppl 1: S8–14. doi:10.1016/j.yebeh.2012.10.034. ISSN 1525-5069. PMID 23756488. S2CID 13158036.
Panayiotopoulos, Chrysostomos P.; Obeid, Tahir; Waheed, Ghazala (1989-04-01). "Absences in juvenile myoclonic epilepsy: A clinical and video-electroencephalographic study". Annals of Neurology. 25 (4): 391–397. doi:10.1002/ana.410250411. ISSN 0364-5134. PMID 2496640. S2CID 46341562.
Pedersen, S. B.; Petersen, K. A. (2009-01-29). "Juvenile myoclonic epilepsy: clinical and EEG features". Acta Neurologica Scandinavica. 97 (3): 160–163. doi:10.1111/j.1600-0404.1998.tb00630.x. ISSN 0001-6314. PMID 9531431. S2CID 36581509.
Uchida, Carina Gonçalves Pedroso; de Carvalho, Kelly Cristina; Guaranha, Mirian Salvadori Bittar; Guilhoto, Laura Maria Figueiredo F.; de Araújo Filho, Gerardo Maria; Wolf, Peter; Yacubian, Elza Márcia Targas (2015-11-01). "Phenotyping juvenile myoclonic epilepsy. Praxis induction as a biomarker of unfavorable prognosis". Seizure. 32: 62–68. doi:10.1016/j.seizure.2015.09.011. ISSN 1532-2688. PMID 26552565. S2CID 1850531.
Almane, Dace N.; Jones, Jana E.; McMillan, Taylor; Stafstrom, Carl E.; Hsu, David A.; Seidenberg, Michael; Hermann, Bruce P.; Oyegbile, Temitayo O. (2019-12-01). "The Timing, Nature, and Range of Neurobehavioral Comorbidities in Juvenile Myoclonic Epilepsy". Pediatric Neurology. 101: 47–52. doi:10.1016/j.pediatrneurol.2019.03.011. ISSN 0887-8994. PMC 6752993. PMID 31122836.
de Araujo Filho, Gerardo Maria; Yacubian, Elza Márcia Targas (2013-07-01). "Juvenile myoclonic epilepsy: Psychiatric comorbidity and impact on outcome". Epilepsy & Behavior. 28: S74 – S80. doi:10.1016/j.yebeh.2013.03.026. ISSN 1525-5050. PMID 23756487. S2CID 22518595.
Pascalicchio, Tatiana Frascareli; de Araujo Filho, Gerardo M.; da Silva Noffs, Maria Helena; Lin, Katia; Caboclo, Luís Otávio S.F.; Vidal-Dourado, Marcos; Ferreira Guilhoto, Laura M.F.; Yacubian, Elza Márcia Targas (2007-03-01). "Neuropsychological profile of patients with juvenile myoclonic epilepsy: A controlled study of 50 patients". Epilepsy & Behavior. 10 (2): 263–267. doi:10.1016/j.yebeh.2006.11.012. ISSN 1525-5050. PMID 17258506. S2CID 34797961.
Koepp, Matthias J; Thomas, Rhys H; Wandschneider, Britta; Berkovic, Samuel F; Schmidt, Dieter (2014-06-14). "Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy". Expert Review of Neurotherapeutics. 14 (7): 819–831. doi:10.1586/14737175.2014.928203. ISSN 1473-7175. PMID 24931665. S2CID 23762833.
Delgado-Escueta, Antonio V. (2007-05-01). "Advances in genetics of juvenile myoclonic epilepsies". Epilepsy Currents. 7 (3): 61–67. doi:10.1111/j.1535-7511.2007.00171.x. ISSN 1535-7597. PMC 1874323. PMID 17520076.
Santos, Bruna Priscila Dos; Marinho, Chiara Rachel Maciel; Marques, Thalita Ewellyn Batista Sales; Angelo, Layanne Kelly Gomes; Malta, Maísa Vieira da Silva; Duzzioni, Marcelo; Castro, Olagide Wagner de; Leite, João Pereira; Barbosa, Fabiano Timbó; Gitaí, Daniel Leite Góes (2017). "Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies". PLOS ONE. 12 (6): e0179629. Bibcode:2017PLoSO..1279629S. doi:10.1371/journal.pone.0179629. ISSN 1932-6203. PMC 5479548. PMID 28636645.
Bailey, Julia N.; de Nijs, Laurence; Bai, Dongsheng; Suzuki, Toshimitsu; Miyamoto, Hiroyuki; Tanaka, Miyabi; Patterson, Christopher; Lin, Yu-Chen; Medina, Marco T.; Alonso, María E.; Serratosa, José M.; Durón, Reyna M.; Nguyen, Viet H.; Wight, Jenny E.; Martínez-Juárez, Iris E. (2018-03-15). "Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy". The New England Journal of Medicine. 378 (11): 1018–1028. doi:10.1056/NEJMoa1700175. ISSN 1533-4406. PMID 29539279. S2CID 4229602.
de Nijs L, Wolkoff N, Coumans B, Delgado-Escueta AV, Grisar T, Lakaye B (December 2012). "Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development". Human Molecular Genetics. 21 (23): 5106–5117. doi:10.1093/hmg/dds356. PMC 3490517. PMID 22926142.
Gilsoul, Maxime; Grisar, Thierry; Delgado-Escueta, Antonio V.; de Nijs, Laurence; Lakaye, Bernard (2019-09-27). "Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy". Frontiers in Cellular Neuroscience. 13: 433. doi:10.3389/fncel.2019.00433. ISSN 1662-5102. PMC 6776584. PMID 31611775.
Badawy, R.A.B.; Macdonell, R. A.L.; Jackson, G. D.; Berkovic, S. F. (2009-07-20). "Why do seizures in generalized epilepsy often occur in the morning?". Neurology. 73 (3): 218–222. doi:10.1212/wnl.0b013e3181ae7ca6. ISSN 0028-3878. PMID 19620610. S2CID 5501577.
Manganotti, P (2006-01-01). "Effects of sleep deprivation on cortical excitability in patients affected by juvenile myoclonic epilepsy: a combined transcranial magnetic stimulation and EEG study". Journal of Neurology, Neurosurgery & Psychiatry. 77 (1): 56–60. doi:10.1136/jnnp.2004.041137. ISSN 0022-3050. PMC 2117394. PMID 16361593.
Wolf, Peter; Yacubian, Elza Márcia Targas; Avanzini, Giuliano; Sander, Thomas; Schmitz, Bettina; Wandschneider, Britta; Koepp, Matthias (2015-08-01). "Juvenile myoclonic epilepsy: A system disorder of the brain". Epilepsy Research. 114: 2–12. doi:10.1016/j.eplepsyres.2015.04.008. ISSN 0920-1211. PMID 26088880. S2CID 31796776.
Delgado-Escueta AV (2007-05-01). "Advances in genetics of juvenile myoclonic epilepsies". Epilepsy Currents. 7 (3): 61–67. doi:10.1111/j.1535-7511.2007.00171.x. PMC 1874323. PMID 17520076.
Buraei Z, Yang J (October 2010). "The ß subunit of voltage-gated Ca2+ channels". Physiological Reviews. 90 (4): 1461–1506. doi:10.1152/physrev.00057.2009. PMC 4353500. PMID 20959621.
Burgess DL, Jones JM, Meisler MH, Noebels JL (February 1997). "Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse". Cell. 88 (3): 385–392. doi:10.1016/S0092-8674(00)81877-2. PMID 9039265.
Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, et al. (May 2000). "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia". American Journal of Human Genetics. 66 (5): 1531–1539. doi:10.1086/302909. PMC 1378014. PMID 10762541.
Etemad S, Campiglio M, Obermair GJ, Flucher BE (2014). "The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells". Channels. 8 (4): 334–343. doi:10.4161/chan.29322. PMC 4203735. PMID 24875574.
Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, et al. (June 2002). "Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy". Nature Genetics. 31 (2): 184–189. doi:10.1038/ng885. PMID 11992121. S2CID 11974933.
Hirose S (2014). "Mutant GABAA receptor subunits in genetic (Idiopathic) epilepsy". Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy. Progress in Brain Research. Vol. 213. pp. 55–85. doi:10.1016/B978-0-444-63326-2.00003-X. ISBN 9780444633262. PMID 25194483.
Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM (July 2013). "The quest for juvenile myoclonic epilepsy genes". Epilepsy & Behavior. 28 (Suppl 1): S52 – S57. doi:10.1016/j.yebeh.2012.06.033. PMID 23756480. S2CID 1159871.
Grünewald RA, Chroni E, Panayiotopoulos CP (June 1992). "Delayed diagnosis of juvenile myoclonic epilepsy". Journal of Neurology, Neurosurgery, and Psychiatry. 55 (6): 497–499. doi:10.1136/jnnp.55.6.497. PMC 1014908. PMID 1619419.
Kim JH (December 2017). "Grey and White Matter Alterations in Juvenile Myoclonic Epilepsy: A Comprehensive Review". Journal of Epilepsy Research. 7 (2): 77–88. doi:10.14581/jer.17013. PMC 5767493. PMID 29344465.
Koepp MJ, Woermann F, Savic I, Wandschneider B (July 2013). "Juvenile myoclonic epilepsy--neuroimaging findings". Epilepsy & Behavior. Juvenile Myoclonic Epilepsy: What is it Really?. 28 (Suppl 1): S40 – S44. doi:10.1016/j.yebeh.2012.06.035. PMID 23756478. S2CID 21360686.
Tomson T, Battino D, Perucca E (February 2016). "Valproic acid after five decades of use in epilepsy: time to reconsider the indications of a time-honoured drug". Lancet Neurology. 15 (2): 210–218. doi:10.1016/S1474-4422(15)00314-2. PMID 26655849. S2CID 29434414.
Tomson T, Marson A, Boon P, Canevini MP, Covanis A, Gaily E, et al. (July 2015). "Valproate in the treatment of epilepsy in girls and women of childbearing potential". Epilepsia. 56 (7): 1006–1019. doi:10.1111/epi.13021. PMID 25851171.
Baykan B, Altindag EA, Bebek N, Ozturk AY, Aslantas B, Gurses C, et al. (May 2008). "Myoclonic seizures subside in the fourth decade in juvenile myoclonic epilepsy". Neurology. 70 (22 Pt 2): 2123–2129. doi:10.1212/01.wnl.0000313148.34629.1d. PMID 18505992. S2CID 28743237.
Geithner J, Schneider F, Wang Z, Berneiser J, Herzer R, Kessler C, Runge U (August 2012). "Predictors for long-term seizure outcome in juvenile myoclonic epilepsy: 25-63 years of follow-up". Epilepsia. 53 (8): 1379–1386. doi:10.1111/j.1528-1167.2012.03526.x. PMID 22686598. S2CID 13521080.
Syvertsen MR, Thuve S, Stordrange BS, Brodtkorb E (May 2014). "Clinical heterogeneity of juvenile myoclonic epilepsy: follow-up after an interval of more than 20 years". Seizure. 23 (5): 344–348. doi:10.1016/j.seizure.2014.01.012. PMID 24512779. S2CID 14722826.

dx.doi.org

Wirrell, E. C.; Camfield, C. S.; Camfield, P. R.; Gordon, K. E.; Dooley, J. M. (1996-10-01). "Long-term prognosis of typical childhood absence epilepsy: Remission or progression to juvenile myoclonic epilepsy". Neurology. 47 (4): 912–918. doi:10.1212/wnl.47.4.912. ISSN 0028-3878. PMID 8857718. S2CID 23058713.
Panayiotopoulos, Chrysostomos P.; Obeid, Tahir; Waheed, Ghazala (1989-04-01). "Absences in juvenile myoclonic epilepsy: A clinical and video-electroencephalographic study". Annals of Neurology. 25 (4): 391–397. doi:10.1002/ana.410250411. ISSN 0364-5134. PMID 2496640. S2CID 46341562.
Almane, Dace N.; Jones, Jana E.; McMillan, Taylor; Stafstrom, Carl E.; Hsu, David A.; Seidenberg, Michael; Hermann, Bruce P.; Oyegbile, Temitayo O. (2019-12-01). "The Timing, Nature, and Range of Neurobehavioral Comorbidities in Juvenile Myoclonic Epilepsy". Pediatric Neurology. 101: 47–52. doi:10.1016/j.pediatrneurol.2019.03.011. ISSN 0887-8994. PMC 6752993. PMID 31122836.
de Araujo Filho, Gerardo Maria; Yacubian, Elza Márcia Targas (2013-07-01). "Juvenile myoclonic epilepsy: Psychiatric comorbidity and impact on outcome". Epilepsy & Behavior. 28: S74 – S80. doi:10.1016/j.yebeh.2013.03.026. ISSN 1525-5050. PMID 23756487. S2CID 22518595.
Pascalicchio, Tatiana Frascareli; de Araujo Filho, Gerardo M.; da Silva Noffs, Maria Helena; Lin, Katia; Caboclo, Luís Otávio S.F.; Vidal-Dourado, Marcos; Ferreira Guilhoto, Laura M.F.; Yacubian, Elza Márcia Targas (2007-03-01). "Neuropsychological profile of patients with juvenile myoclonic epilepsy: A controlled study of 50 patients". Epilepsy & Behavior. 10 (2): 263–267. doi:10.1016/j.yebeh.2006.11.012. ISSN 1525-5050. PMID 17258506. S2CID 34797961.
Koepp, Matthias J; Thomas, Rhys H; Wandschneider, Britta; Berkovic, Samuel F; Schmidt, Dieter (2014-06-14). "Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy". Expert Review of Neurotherapeutics. 14 (7): 819–831. doi:10.1586/14737175.2014.928203. ISSN 1473-7175. PMID 24931665. S2CID 23762833.
Badawy, R.A.B.; Macdonell, R. A.L.; Jackson, G. D.; Berkovic, S. F. (2009-07-20). "Why do seizures in generalized epilepsy often occur in the morning?". Neurology. 73 (3): 218–222. doi:10.1212/wnl.0b013e3181ae7ca6. ISSN 0028-3878. PMID 19620610. S2CID 5501577.
Manganotti, P (2006-01-01). "Effects of sleep deprivation on cortical excitability in patients affected by juvenile myoclonic epilepsy: a combined transcranial magnetic stimulation and EEG study". Journal of Neurology, Neurosurgery & Psychiatry. 77 (1): 56–60. doi:10.1136/jnnp.2004.041137. ISSN 0022-3050. PMC 2117394. PMID 16361593.
Wolf, Peter; Yacubian, Elza Márcia Targas; Avanzini, Giuliano; Sander, Thomas; Schmitz, Bettina; Wandschneider, Britta; Koepp, Matthias (2015-08-01). "Juvenile myoclonic epilepsy: A system disorder of the brain". Epilepsy Research. 114: 2–12. doi:10.1016/j.eplepsyres.2015.04.008. ISSN 0920-1211. PMID 26088880. S2CID 31796776.

epilepsy.org.uk

"Comedian Maisie Adam shares her experiences growing up with epilepsy in her new show Vague Epilepsy Action". www.epilepsy.org.uk.

harvard.edu

ui.adsabs.harvard.edu

Santos, Bruna Priscila Dos; Marinho, Chiara Rachel Maciel; Marques, Thalita Ewellyn Batista Sales; Angelo, Layanne Kelly Gomes; Malta, Maísa Vieira da Silva; Duzzioni, Marcelo; Castro, Olagide Wagner de; Leite, João Pereira; Barbosa, Fabiano Timbó; Gitaí, Daniel Leite Góes (2017). "Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies". PLOS ONE. 12 (6): e0179629. Bibcode:2017PLoSO..1279629S. doi:10.1371/journal.pone.0179629. ISSN 1932-6203. PMC 5479548. PMID 28636645.

medscape.com

emedicine.medscape.com

Juvenile Myoclonic Epilepsy at eMedicine

nih.gov

pubmed.ncbi.nlm.nih.gov

Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. (April 2017). "ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology". Epilepsia. 58 (4): 512–521. doi:10.1111/epi.13709. PMC 5386840. PMID 28276062.
Panayiotopoulos CP, Obeid T, Tahan AR (1994). "Juvenile myoclonic epilepsy: a 5-year prospective study". Epilepsia. 35 (2): 285–296. doi:10.1111/j.1528-1157.1994.tb02432.x. PMID 8156946. S2CID 2840926.
Camfield CS, Striano P, Camfield PR (1 July 2013). "Epidemiology of juvenile myoclonic epilepsy". Epilepsy & Behavior. 28 (Suppl 1): S15 – S17. doi:10.1016/j.yebeh.2012.06.024. PMID 23756473. S2CID 27904623.
Syvertsen M, Hellum MK, Hansen G, Edland A, Nakken KO, Selmer KK, Koht J (January 2017). "Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway". Epilepsia. 58 (1): 105–112. doi:10.1111/epi.13613. PMID 27861775. S2CID 46366621.
Gilsoul M, Grisar T, Delgado-Escueta AV, de Nijs L, Lakaye B (2019). "Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy". Frontiers in Cellular Neuroscience. 13: 433. doi:10.3389/fncel.2019.00433. PMC 6776584. PMID 31611775.
Kasteleijn-Nolst Trenité DG, de Weerd A, Beniczky S (July 2013). "Chronodependency and provocative factors in juvenile myoclonic epilepsy". Epilepsy & Behavior. 28 (Suppl 1): S25 – S29. doi:10.1016/j.yebeh.2012.11.045. PMID 23756476. S2CID 40326663.
Striano, Pasquale; Nobile, Carlo (2018-06-01). "The genetic basis of juvenile myoclonic epilepsy". Lancet Neurology. 17 (6): 493–495. doi:10.1016/S1474-4422(18)30173-X. ISSN 1474-4465. PMID 29778354. S2CID 29164052.
Jallon, Pierre; Latour, Patrick (2005). "Epidemiology of idiopathic generalized epilepsies". Epilepsia. 46 Suppl 9: 10–14. doi:10.1111/j.1528-1167.2005.00309.x. ISSN 0013-9580. PMID 16302871. S2CID 15708523.
Camfield, Carol S.; Camfield, Peter R. (2009-09-29). "Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study". Neurology. 73 (13): 1041–1045. doi:10.1212/WNL.0b013e3181b9c86f. ISSN 1526-632X. PMID 19786695. S2CID 24296234.
Amrutkar, Chaitanya; Riel-Romero., Rosario M. (2 February 2023). Juvenile Myoclonic Epilepsy. Treasure Island (FL): StatPearls Publishing. PMID 30725794. Retrieved 1 September 2023.
Wirrell, E. C.; Camfield, C. S.; Camfield, P. R.; Gordon, K. E.; Dooley, J. M. (1996-10-01). "Long-term prognosis of typical childhood absence epilepsy: Remission or progression to juvenile myoclonic epilepsy". Neurology. 47 (4): 912–918. doi:10.1212/wnl.47.4.912. ISSN 0028-3878. PMID 8857718. S2CID 23058713.
Yacubian EM (1 January 2017). "Juvenile myoclonic epilepsy: Challenges on its 60th anniversary". Seizure. 44: 48–52. doi:10.1016/j.seizure.2016.09.005. PMID 27665373. S2CID 4930675.
Genton, Pierre; Thomas, Pierre; Kasteleijn-Nolst Trenité, Dorothee G. A.; Medina, Marco Tulio; Salas-Puig, Javier (2013-07-01). "Clinical aspects of juvenile myoclonic epilepsy". Epilepsy & Behavior. 28 Suppl 1: S8–14. doi:10.1016/j.yebeh.2012.10.034. ISSN 1525-5069. PMID 23756488. S2CID 13158036.
Panayiotopoulos, Chrysostomos P.; Obeid, Tahir; Waheed, Ghazala (1989-04-01). "Absences in juvenile myoclonic epilepsy: A clinical and video-electroencephalographic study". Annals of Neurology. 25 (4): 391–397. doi:10.1002/ana.410250411. ISSN 0364-5134. PMID 2496640. S2CID 46341562.
Pedersen, S. B.; Petersen, K. A. (2009-01-29). "Juvenile myoclonic epilepsy: clinical and EEG features". Acta Neurologica Scandinavica. 97 (3): 160–163. doi:10.1111/j.1600-0404.1998.tb00630.x. ISSN 0001-6314. PMID 9531431. S2CID 36581509.
Uchida, Carina Gonçalves Pedroso; de Carvalho, Kelly Cristina; Guaranha, Mirian Salvadori Bittar; Guilhoto, Laura Maria Figueiredo F.; de Araújo Filho, Gerardo Maria; Wolf, Peter; Yacubian, Elza Márcia Targas (2015-11-01). "Phenotyping juvenile myoclonic epilepsy. Praxis induction as a biomarker of unfavorable prognosis". Seizure. 32: 62–68. doi:10.1016/j.seizure.2015.09.011. ISSN 1532-2688. PMID 26552565. S2CID 1850531.
Almane, Dace N.; Jones, Jana E.; McMillan, Taylor; Stafstrom, Carl E.; Hsu, David A.; Seidenberg, Michael; Hermann, Bruce P.; Oyegbile, Temitayo O. (2019-12-01). "The Timing, Nature, and Range of Neurobehavioral Comorbidities in Juvenile Myoclonic Epilepsy". Pediatric Neurology. 101: 47–52. doi:10.1016/j.pediatrneurol.2019.03.011. ISSN 0887-8994. PMC 6752993. PMID 31122836.
de Araujo Filho, Gerardo Maria; Yacubian, Elza Márcia Targas (2013-07-01). "Juvenile myoclonic epilepsy: Psychiatric comorbidity and impact on outcome". Epilepsy & Behavior. 28: S74 – S80. doi:10.1016/j.yebeh.2013.03.026. ISSN 1525-5050. PMID 23756487. S2CID 22518595.
Pascalicchio, Tatiana Frascareli; de Araujo Filho, Gerardo M.; da Silva Noffs, Maria Helena; Lin, Katia; Caboclo, Luís Otávio S.F.; Vidal-Dourado, Marcos; Ferreira Guilhoto, Laura M.F.; Yacubian, Elza Márcia Targas (2007-03-01). "Neuropsychological profile of patients with juvenile myoclonic epilepsy: A controlled study of 50 patients". Epilepsy & Behavior. 10 (2): 263–267. doi:10.1016/j.yebeh.2006.11.012. ISSN 1525-5050. PMID 17258506. S2CID 34797961.
Koepp, Matthias J; Thomas, Rhys H; Wandschneider, Britta; Berkovic, Samuel F; Schmidt, Dieter (2014-06-14). "Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy". Expert Review of Neurotherapeutics. 14 (7): 819–831. doi:10.1586/14737175.2014.928203. ISSN 1473-7175. PMID 24931665. S2CID 23762833.
Delgado-Escueta, Antonio V. (2007-05-01). "Advances in genetics of juvenile myoclonic epilepsies". Epilepsy Currents. 7 (3): 61–67. doi:10.1111/j.1535-7511.2007.00171.x. ISSN 1535-7597. PMC 1874323. PMID 17520076.
Santos, Bruna Priscila Dos; Marinho, Chiara Rachel Maciel; Marques, Thalita Ewellyn Batista Sales; Angelo, Layanne Kelly Gomes; Malta, Maísa Vieira da Silva; Duzzioni, Marcelo; Castro, Olagide Wagner de; Leite, João Pereira; Barbosa, Fabiano Timbó; Gitaí, Daniel Leite Góes (2017). "Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies". PLOS ONE. 12 (6): e0179629. Bibcode:2017PLoSO..1279629S. doi:10.1371/journal.pone.0179629. ISSN 1932-6203. PMC 5479548. PMID 28636645.
Bailey, Julia N.; de Nijs, Laurence; Bai, Dongsheng; Suzuki, Toshimitsu; Miyamoto, Hiroyuki; Tanaka, Miyabi; Patterson, Christopher; Lin, Yu-Chen; Medina, Marco T.; Alonso, María E.; Serratosa, José M.; Durón, Reyna M.; Nguyen, Viet H.; Wight, Jenny E.; Martínez-Juárez, Iris E. (2018-03-15). "Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy". The New England Journal of Medicine. 378 (11): 1018–1028. doi:10.1056/NEJMoa1700175. ISSN 1533-4406. PMID 29539279. S2CID 4229602.
de Nijs L, Wolkoff N, Coumans B, Delgado-Escueta AV, Grisar T, Lakaye B (December 2012). "Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development". Human Molecular Genetics. 21 (23): 5106–5117. doi:10.1093/hmg/dds356. PMC 3490517. PMID 22926142.
Gilsoul, Maxime; Grisar, Thierry; Delgado-Escueta, Antonio V.; de Nijs, Laurence; Lakaye, Bernard (2019-09-27). "Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy". Frontiers in Cellular Neuroscience. 13: 433. doi:10.3389/fncel.2019.00433. ISSN 1662-5102. PMC 6776584. PMID 31611775.
Badawy, R.A.B.; Macdonell, R. A.L.; Jackson, G. D.; Berkovic, S. F. (2009-07-20). "Why do seizures in generalized epilepsy often occur in the morning?". Neurology. 73 (3): 218–222. doi:10.1212/wnl.0b013e3181ae7ca6. ISSN 0028-3878. PMID 19620610. S2CID 5501577.
Manganotti, P (2006-01-01). "Effects of sleep deprivation on cortical excitability in patients affected by juvenile myoclonic epilepsy: a combined transcranial magnetic stimulation and EEG study". Journal of Neurology, Neurosurgery & Psychiatry. 77 (1): 56–60. doi:10.1136/jnnp.2004.041137. ISSN 0022-3050. PMC 2117394. PMID 16361593.
Wolf, Peter; Yacubian, Elza Márcia Targas; Avanzini, Giuliano; Sander, Thomas; Schmitz, Bettina; Wandschneider, Britta; Koepp, Matthias (2015-08-01). "Juvenile myoclonic epilepsy: A system disorder of the brain". Epilepsy Research. 114: 2–12. doi:10.1016/j.eplepsyres.2015.04.008. ISSN 0920-1211. PMID 26088880. S2CID 31796776.
Delgado-Escueta AV (2007-05-01). "Advances in genetics of juvenile myoclonic epilepsies". Epilepsy Currents. 7 (3): 61–67. doi:10.1111/j.1535-7511.2007.00171.x. PMC 1874323. PMID 17520076.
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Etemad S, Campiglio M, Obermair GJ, Flucher BE (2014). "The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells". Channels. 8 (4): 334–343. doi:10.4161/chan.29322. PMC 4203735. PMID 24875574.
Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, et al. (June 2002). "Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy". Nature Genetics. 31 (2): 184–189. doi:10.1038/ng885. PMID 11992121. S2CID 11974933.
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Kim JH (December 2017). "Grey and White Matter Alterations in Juvenile Myoclonic Epilepsy: A Comprehensive Review". Journal of Epilepsy Research. 7 (2): 77–88. doi:10.14581/jer.17013. PMC 5767493. PMID 29344465.
Koepp MJ, Woermann F, Savic I, Wandschneider B (July 2013). "Juvenile myoclonic epilepsy--neuroimaging findings". Epilepsy & Behavior. Juvenile Myoclonic Epilepsy: What is it Really?. 28 (Suppl 1): S40 – S44. doi:10.1016/j.yebeh.2012.06.035. PMID 23756478. S2CID 21360686.
Tomson T, Battino D, Perucca E (February 2016). "Valproic acid after five decades of use in epilepsy: time to reconsider the indications of a time-honoured drug". Lancet Neurology. 15 (2): 210–218. doi:10.1016/S1474-4422(15)00314-2. PMID 26655849. S2CID 29434414.
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Geithner J, Schneider F, Wang Z, Berneiser J, Herzer R, Kessler C, Runge U (August 2012). "Predictors for long-term seizure outcome in juvenile myoclonic epilepsy: 25-63 years of follow-up". Epilepsia. 53 (8): 1379–1386. doi:10.1111/j.1528-1167.2012.03526.x. PMID 22686598. S2CID 13521080.
Syvertsen MR, Thuve S, Stordrange BS, Brodtkorb E (May 2014). "Clinical heterogeneity of juvenile myoclonic epilepsy: follow-up after an interval of more than 20 years". Seizure. 23 (5): 344–348. doi:10.1016/j.seizure.2014.01.012. PMID 24512779. S2CID 14722826.

ncbi.nlm.nih.gov

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Delgado-Escueta, Antonio V. (2007-05-01). "Advances in genetics of juvenile myoclonic epilepsies". Epilepsy Currents. 7 (3): 61–67. doi:10.1111/j.1535-7511.2007.00171.x. ISSN 1535-7597. PMC 1874323. PMID 17520076.
Santos, Bruna Priscila Dos; Marinho, Chiara Rachel Maciel; Marques, Thalita Ewellyn Batista Sales; Angelo, Layanne Kelly Gomes; Malta, Maísa Vieira da Silva; Duzzioni, Marcelo; Castro, Olagide Wagner de; Leite, João Pereira; Barbosa, Fabiano Timbó; Gitaí, Daniel Leite Góes (2017). "Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies". PLOS ONE. 12 (6): e0179629. Bibcode:2017PLoSO..1279629S. doi:10.1371/journal.pone.0179629. ISSN 1932-6203. PMC 5479548. PMID 28636645.
de Nijs L, Wolkoff N, Coumans B, Delgado-Escueta AV, Grisar T, Lakaye B (December 2012). "Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development". Human Molecular Genetics. 21 (23): 5106–5117. doi:10.1093/hmg/dds356. PMC 3490517. PMID 22926142.
Gilsoul, Maxime; Grisar, Thierry; Delgado-Escueta, Antonio V.; de Nijs, Laurence; Lakaye, Bernard (2019-09-27). "Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy". Frontiers in Cellular Neuroscience. 13: 433. doi:10.3389/fncel.2019.00433. ISSN 1662-5102. PMC 6776584. PMID 31611775.
Manganotti, P (2006-01-01). "Effects of sleep deprivation on cortical excitability in patients affected by juvenile myoclonic epilepsy: a combined transcranial magnetic stimulation and EEG study". Journal of Neurology, Neurosurgery & Psychiatry. 77 (1): 56–60. doi:10.1136/jnnp.2004.041137. ISSN 0022-3050. PMC 2117394. PMID 16361593.
Delgado-Escueta AV (2007-05-01). "Advances in genetics of juvenile myoclonic epilepsies". Epilepsy Currents. 7 (3): 61–67. doi:10.1111/j.1535-7511.2007.00171.x. PMC 1874323. PMID 17520076.
Buraei Z, Yang J (October 2010). "The ß subunit of voltage-gated Ca2+ channels". Physiological Reviews. 90 (4): 1461–1506. doi:10.1152/physrev.00057.2009. PMC 4353500. PMID 20959621.
Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, et al. (May 2000). "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia". American Journal of Human Genetics. 66 (5): 1531–1539. doi:10.1086/302909. PMC 1378014. PMID 10762541.
Etemad S, Campiglio M, Obermair GJ, Flucher BE (2014). "The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells". Channels. 8 (4): 334–343. doi:10.4161/chan.29322. PMC 4203735. PMID 24875574.
Grünewald RA, Chroni E, Panayiotopoulos CP (June 1992). "Delayed diagnosis of juvenile myoclonic epilepsy". Journal of Neurology, Neurosurgery, and Psychiatry. 55 (6): 497–499. doi:10.1136/jnnp.55.6.497. PMC 1014908. PMID 1619419.
Kim JH (December 2017). "Grey and White Matter Alterations in Juvenile Myoclonic Epilepsy: A Comprehensive Review". Journal of Epilepsy Research. 7 (2): 77–88. doi:10.14581/jer.17013. PMC 5767493. PMID 29344465.

semanticscholar.org

api.semanticscholar.org

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Genton, Pierre; Thomas, Pierre; Kasteleijn-Nolst Trenité, Dorothee G. A.; Medina, Marco Tulio; Salas-Puig, Javier (2013-07-01). "Clinical aspects of juvenile myoclonic epilepsy". Epilepsy & Behavior. 28 Suppl 1: S8–14. doi:10.1016/j.yebeh.2012.10.034. ISSN 1525-5069. PMID 23756488. S2CID 13158036.
Panayiotopoulos, Chrysostomos P.; Obeid, Tahir; Waheed, Ghazala (1989-04-01). "Absences in juvenile myoclonic epilepsy: A clinical and video-electroencephalographic study". Annals of Neurology. 25 (4): 391–397. doi:10.1002/ana.410250411. ISSN 0364-5134. PMID 2496640. S2CID 46341562.
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Koepp, Matthias J; Thomas, Rhys H; Wandschneider, Britta; Berkovic, Samuel F; Schmidt, Dieter (2014-06-14). "Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy". Expert Review of Neurotherapeutics. 14 (7): 819–831. doi:10.1586/14737175.2014.928203. ISSN 1473-7175. PMID 24931665. S2CID 23762833.
Bailey, Julia N.; de Nijs, Laurence; Bai, Dongsheng; Suzuki, Toshimitsu; Miyamoto, Hiroyuki; Tanaka, Miyabi; Patterson, Christopher; Lin, Yu-Chen; Medina, Marco T.; Alonso, María E.; Serratosa, José M.; Durón, Reyna M.; Nguyen, Viet H.; Wight, Jenny E.; Martínez-Juárez, Iris E. (2018-03-15). "Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy". The New England Journal of Medicine. 378 (11): 1018–1028. doi:10.1056/NEJMoa1700175. ISSN 1533-4406. PMID 29539279. S2CID 4229602.
Badawy, R.A.B.; Macdonell, R. A.L.; Jackson, G. D.; Berkovic, S. F. (2009-07-20). "Why do seizures in generalized epilepsy often occur in the morning?". Neurology. 73 (3): 218–222. doi:10.1212/wnl.0b013e3181ae7ca6. ISSN 0028-3878. PMID 19620610. S2CID 5501577.
Wolf, Peter; Yacubian, Elza Márcia Targas; Avanzini, Giuliano; Sander, Thomas; Schmitz, Bettina; Wandschneider, Britta; Koepp, Matthias (2015-08-01). "Juvenile myoclonic epilepsy: A system disorder of the brain". Epilepsy Research. 114: 2–12. doi:10.1016/j.eplepsyres.2015.04.008. ISSN 0920-1211. PMID 26088880. S2CID 31796776.
Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, et al. (June 2002). "Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy". Nature Genetics. 31 (2): 184–189. doi:10.1038/ng885. PMID 11992121. S2CID 11974933.
Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM (July 2013). "The quest for juvenile myoclonic epilepsy genes". Epilepsy & Behavior. 28 (Suppl 1): S52 – S57. doi:10.1016/j.yebeh.2012.06.033. PMID 23756480. S2CID 1159871.
Koepp MJ, Woermann F, Savic I, Wandschneider B (July 2013). "Juvenile myoclonic epilepsy--neuroimaging findings". Epilepsy & Behavior. Juvenile Myoclonic Epilepsy: What is it Really?. 28 (Suppl 1): S40 – S44. doi:10.1016/j.yebeh.2012.06.035. PMID 23756478. S2CID 21360686.
Tomson T, Battino D, Perucca E (February 2016). "Valproic acid after five decades of use in epilepsy: time to reconsider the indications of a time-honoured drug". Lancet Neurology. 15 (2): 210–218. doi:10.1016/S1474-4422(15)00314-2. PMID 26655849. S2CID 29434414.
Baykan B, Altindag EA, Bebek N, Ozturk AY, Aslantas B, Gurses C, et al. (May 2008). "Myoclonic seizures subside in the fourth decade in juvenile myoclonic epilepsy". Neurology. 70 (22 Pt 2): 2123–2129. doi:10.1212/01.wnl.0000313148.34629.1d. PMID 18505992. S2CID 28743237.
Geithner J, Schneider F, Wang Z, Berneiser J, Herzer R, Kessler C, Runge U (August 2012). "Predictors for long-term seizure outcome in juvenile myoclonic epilepsy: 25-63 years of follow-up". Epilepsia. 53 (8): 1379–1386. doi:10.1111/j.1528-1167.2012.03526.x. PMID 22686598. S2CID 13521080.
Syvertsen MR, Thuve S, Stordrange BS, Brodtkorb E (May 2014). "Clinical heterogeneity of juvenile myoclonic epilepsy: follow-up after an interval of more than 20 years". Seizure. 23 (5): 344–348. doi:10.1016/j.seizure.2014.01.012. PMID 24512779. S2CID 14722826.

worldcat.org

search.worldcat.org

Striano, Pasquale; Nobile, Carlo (2018-06-01). "The genetic basis of juvenile myoclonic epilepsy". Lancet Neurology. 17 (6): 493–495. doi:10.1016/S1474-4422(18)30173-X. ISSN 1474-4465. PMID 29778354. S2CID 29164052.
Jallon, Pierre; Latour, Patrick (2005). "Epidemiology of idiopathic generalized epilepsies". Epilepsia. 46 Suppl 9: 10–14. doi:10.1111/j.1528-1167.2005.00309.x. ISSN 0013-9580. PMID 16302871. S2CID 15708523.
Camfield, Carol S.; Camfield, Peter R. (2009-09-29). "Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study". Neurology. 73 (13): 1041–1045. doi:10.1212/WNL.0b013e3181b9c86f. ISSN 1526-632X. PMID 19786695. S2CID 24296234.
Wirrell, E. C.; Camfield, C. S.; Camfield, P. R.; Gordon, K. E.; Dooley, J. M. (1996-10-01). "Long-term prognosis of typical childhood absence epilepsy: Remission or progression to juvenile myoclonic epilepsy". Neurology. 47 (4): 912–918. doi:10.1212/wnl.47.4.912. ISSN 0028-3878. PMID 8857718. S2CID 23058713.
Genton, Pierre; Thomas, Pierre; Kasteleijn-Nolst Trenité, Dorothee G. A.; Medina, Marco Tulio; Salas-Puig, Javier (2013-07-01). "Clinical aspects of juvenile myoclonic epilepsy". Epilepsy & Behavior. 28 Suppl 1: S8–14. doi:10.1016/j.yebeh.2012.10.034. ISSN 1525-5069. PMID 23756488. S2CID 13158036.
Panayiotopoulos, Chrysostomos P.; Obeid, Tahir; Waheed, Ghazala (1989-04-01). "Absences in juvenile myoclonic epilepsy: A clinical and video-electroencephalographic study". Annals of Neurology. 25 (4): 391–397. doi:10.1002/ana.410250411. ISSN 0364-5134. PMID 2496640. S2CID 46341562.
Pedersen, S. B.; Petersen, K. A. (2009-01-29). "Juvenile myoclonic epilepsy: clinical and EEG features". Acta Neurologica Scandinavica. 97 (3): 160–163. doi:10.1111/j.1600-0404.1998.tb00630.x. ISSN 0001-6314. PMID 9531431. S2CID 36581509.
Uchida, Carina Gonçalves Pedroso; de Carvalho, Kelly Cristina; Guaranha, Mirian Salvadori Bittar; Guilhoto, Laura Maria Figueiredo F.; de Araújo Filho, Gerardo Maria; Wolf, Peter; Yacubian, Elza Márcia Targas (2015-11-01). "Phenotyping juvenile myoclonic epilepsy. Praxis induction as a biomarker of unfavorable prognosis". Seizure. 32: 62–68. doi:10.1016/j.seizure.2015.09.011. ISSN 1532-2688. PMID 26552565. S2CID 1850531.
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