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Epilepsy, juvenile myoclonic 7(EJM7)

MedGen UID:
442768
•Concept ID:
C2751604
•
Finding
Synonyms: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7; GABRD-Related Juvenile Myoclonic Epilepsy
 
OMIM®: 137163; 613060

Professional guidelines

PubMed

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM, Weissensteiner T, Pereira C, Susnea I, Danquah BD, Morales Torres G, Rocha ME, Cozma C, Saravanakumar D, Mannepalli S, Kandaswamy KK, Di Bucchianico S, Zimmermann R, Rolfs A, Bauer P, Beetz C
Orphanet J Rare Dis 2022 May 3;17(1):179. doi: 10.1186/s13023-022-02288-8. PMID: 35505348Free PMC Article
Epilepsy: Epileptic Syndromes and Treatment.
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Clinical profile and treatment outcome of epilepsy syndromes in children: A hospital-based study in Eastern Nepal.
Poudel P, Kafle SP, Pokharel R
Epilepsia Open 2021 Mar;6(1):206-215. Epub 2021 Feb 8 doi: 10.1002/epi4.12470. PMID: 33681663Free PMC Article

Recent clinical studies

Etiology

A comparison of comorbid headache between patients with temporal lobe epilepsy and juvenile myoclonic epilepsy.
Zhang S, Li J, Zhou D
Sci Rep 2023 Oct 8;13(1):16962. doi: 10.1038/s41598-023-43705-7. PMID: 37806981Free PMC Article
Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK
Sci Rep 2022 Feb 21;12(1):2785. doi: 10.1038/s41598-022-06324-2. PMID: 35190554Free PMC Article
Juvenile myoclonic epilepsy: Long-term prognosis and risk factors.
Pietrafusa N, La Neve A, de Palma L, Boero G, Luisi C, Vigevano F, Specchio N
Brain Dev 2021 Jun;43(6):688-697. Epub 2021 Mar 27 doi: 10.1016/j.braindev.2021.02.005. PMID: 33781581
Social cognition and psychopathology in childhood and adolescence.
Besag FMC, Vasey MJ
Epilepsy Behav 2019 Nov;100(Pt B):106210. Epub 2019 Jun 10 doi: 10.1016/j.yebeh.2019.03.015. PMID: 31196824
Myoclonic-astatic epilepsy.
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

Diagnosis

Epilepsy: Epileptic Syndromes and Treatment.
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Juvenile myoclonic epilepsy: Long-term prognosis and risk factors.
Pietrafusa N, La Neve A, de Palma L, Boero G, Luisi C, Vigevano F, Specchio N
Brain Dev 2021 Jun;43(6):688-697. Epub 2021 Mar 27 doi: 10.1016/j.braindev.2021.02.005. PMID: 33781581
Juvenile myoclonic epilepsy: Challenges on its 60th anniversary.
Yacubian EM
Seizure 2017 Jan;44:48-52. Epub 2016 Sep 15 doi: 10.1016/j.seizure.2016.09.005. PMID: 27665373
Epilepsy and sleep.
Meierkord H
Curr Opin Neurol 1994 Apr;7(2):107-12. doi: 10.1097/00019052-199404000-00006. PMID: 7912613
Myoclonic-astatic epilepsy.
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

Therapy

Sleep in juvenile myoclonic epilepsy: A systematic review.
Yetkin O, Zarowski M, Baykan B
Seizure 2024 Aug;120:61-71. Epub 2024 Jun 10 doi: 10.1016/j.seizure.2024.05.014. PMID: 38908143
Juvenile myoclonic epilepsy: Long-term prognosis and risk factors.
Pietrafusa N, La Neve A, de Palma L, Boero G, Luisi C, Vigevano F, Specchio N
Brain Dev 2021 Jun;43(6):688-697. Epub 2021 Mar 27 doi: 10.1016/j.braindev.2021.02.005. PMID: 33781581
Juvenile myoclonic epilepsy: Challenges on its 60th anniversary.
Yacubian EM
Seizure 2017 Jan;44:48-52. Epub 2016 Sep 15 doi: 10.1016/j.seizure.2016.09.005. PMID: 27665373
Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy.
Koepp MJ, Thomas RH, Wandschneider B, Berkovic SF, Schmidt D
Expert Rev Neurother 2014 Jul;14(7):819-31. Epub 2014 Jun 14 doi: 10.1586/14737175.2014.928203. PMID: 24931665
Spotlight on levetiracetam in epilepsy.
Lyseng-Williamson KA
CNS Drugs 2011 Oct 1;25(10):901-5. doi: 10.2165/11208340-000000000-00000. PMID: 21936590

Prognosis

Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK
Sci Rep 2022 Feb 21;12(1):2785. doi: 10.1038/s41598-022-06324-2. PMID: 35190554Free PMC Article
Epilepsy: Epileptic Syndromes and Treatment.
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Juvenile myoclonic epilepsy: Long-term prognosis and risk factors.
Pietrafusa N, La Neve A, de Palma L, Boero G, Luisi C, Vigevano F, Specchio N
Brain Dev 2021 Jun;43(6):688-697. Epub 2021 Mar 27 doi: 10.1016/j.braindev.2021.02.005. PMID: 33781581
Juvenile myoclonic epilepsy: Challenges on its 60th anniversary.
Yacubian EM
Seizure 2017 Jan;44:48-52. Epub 2016 Sep 15 doi: 10.1016/j.seizure.2016.09.005. PMID: 27665373
Myoclonic-astatic epilepsy.
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

Clinical prediction guides

Sleep in juvenile myoclonic epilepsy: A systematic review.
Yetkin O, Zarowski M, Baykan B
Seizure 2024 Aug;120:61-71. Epub 2024 Jun 10 doi: 10.1016/j.seizure.2024.05.014. PMID: 38908143
A comparison of comorbid headache between patients with temporal lobe epilepsy and juvenile myoclonic epilepsy.
Zhang S, Li J, Zhou D
Sci Rep 2023 Oct 8;13(1):16962. doi: 10.1038/s41598-023-43705-7. PMID: 37806981Free PMC Article
Dynamic flexibility and controllability of network communities in juvenile myoclonic epilepsy.
Vataman A, Ciolac D, Chiosa V, Aftene D, Leahu P, Winter Y, Groppa SA, Gonzalez-Escamilla G, Muthuraman M, Groppa S
Neurobiol Dis 2023 Apr;179:106055. Epub 2023 Feb 25 doi: 10.1016/j.nbd.2023.106055. PMID: 36849015
Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK
Sci Rep 2022 Feb 21;12(1):2785. doi: 10.1038/s41598-022-06324-2. PMID: 35190554Free PMC Article
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
Bailey JN, de Nijs L, Bai D, Suzuki T, Miyamoto H, Tanaka M, Patterson C, Lin YC, Medina MT, Alonso ME, Serratosa JM, Durón RM, Nguyen VH, Wight JE, Martínez-Juárez IE, Ochoa A, Jara-Prado A, Guilhoto L, Molina Y, Yacubian EM, López-Ruiz M, Inoue Y, Kaneko S, Hirose S, Osawa M, Oguni H, Fujimoto S, Grisar TM, Stern JM, Yamakawa K, Lakaye B, Delgado-Escueta AV
N Engl J Med 2018 Mar 15;378(11):1018-1028. doi: 10.1056/NEJMoa1700175. PMID: 29539279

Recent systematic reviews

Sleep in juvenile myoclonic epilepsy: A systematic review.
Yetkin O, Zarowski M, Baykan B
Seizure 2024 Aug;120:61-71. Epub 2024 Jun 10 doi: 10.1016/j.seizure.2024.05.014. PMID: 38908143
Patterns of Gray Matter Abnormalities in Idiopathic Generalized Epilepsy: A Meta-Analysis of Voxel-Based Morphology Studies.
Bin G, Wang T, Zeng H, He X, Li F, Zhang J, Huang B
PLoS One 2017;12(1):e0169076. Epub 2017 Jan 6 doi: 10.1371/journal.pone.0169076. PMID: 28060866Free PMC Article

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