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Items: 1 to 20 of 99

1.

Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study.

Bartocci A, Elia M, Calì F, Tiacci C, Cantisani AT, Perticoni G.

Neurol Sci. 2007 Oct;28(5):276-8. Epub 2007 Oct 31.

PMID:
17972043
2.

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.

Ma S, Blair MA, Abou-Khalil B, Lagrange AH, Gurnett CA, Hedera P.

Epilepsy Res. 2006 Oct;71(2-3):129-34. Epub 2006 Jul 12.

PMID:
16839746
3.

Focal epilepsy recruiting a generalised network of juvenile myoclonic epilepsy: a case report.

Khaing M, Lim KS, Tan CT.

Epileptic Disord. 2014 Sep;16(3):370-4. doi: 10.1684/epd.2014.0672.

4.

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.

Medina MT, Suzuki T, Alonso ME, Durón RM, Martínez-Juárez IE, Bailey JN, Bai D, Inoue Y, Yoshimura I, Kaneko S, Montoya MC, Ochoa A, Prado AJ, Tanaka M, Machado-Salas J, Fujimoto S, Ito M, Hamano S, Sugita K, Ueda Y, Osawa M, Oguni H, Rubio-Donnadieu F, Yamakawa K, Delgado-Escueta AV.

Neurology. 2008 May 27;70(22 Pt 2):2137-44. doi: 10.1212/01.wnl.0000313149.73035.99.

PMID:
18505993
5.

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

Bai D, Bailey JN, Durón RM, Alonso ME, Medina MT, Martínez-Juárez IE, Suzuki T, Machado-Salas J, Ramos-Ramírez R, Tanaka M, Ortega RH, López-Ruiz M, Rasmussen A, Ochoa A, Jara-Prado A, Yamakawa K, Delgado-Escueta AV.

Epilepsia. 2009 May;50(5):1184-90. doi: 10.1111/j.1528-1167.2008.01762.x.

6.

Focal semiologic and electroencephalographic features in patients with juvenile myoclonic epilepsy.

Usui N, Kotagal P, Matsumoto R, Kellinghaus C, Lüders HO.

Epilepsia. 2005 Oct;46(10):1668-76.

7.

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

Annesi F, Gambardella A, Michelucci R, Bianchi A, Marini C, Canevini MP, Capovilla G, Elia M, Buti D, Chifari R, Striano P, Rocca FE, Castellotti B, Cali F, Labate A, LePiane E, Besana D, Sofia V, Tabiadon G, Tortorella G, Vigliano P, Vignoli A, Beccaria F, Annesi G, Striano S, Aguglia U, Guerrini R, Quattrone A.

Epilepsia. 2007 Sep;48(9):1686-1690. doi: 10.1111/j.1528-1167.2007.01173.x. Epub 2007 Jul 18.

8.

Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy.

von Podewils F, Kowoll V, Schroeder W, Geithner J, Wang ZI, Gaida B, Bombach P, Kessler C, Felbor U, Runge U.

Epilepsy Behav. 2015 Mar;44:61-6. doi: 10.1016/j.yebeh.2014.12.016. Epub 2015 Jan 24.

PMID:
25625532
9.

Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.

Jara-Prado A, Martínez-Juárez IE, Ochoa A, González VM, Fernández-González-Aragón Mdel C, López-Ruiz M, Medina MT, Bailey JN, Delgado-Escueta AV, Alonso ME.

Seizure. 2012 Sep;21(7):550-4. doi: 10.1016/j.seizure.2012.05.016. Epub 2012 Jun 22.

10.

Autosomal dominant juvenile myoclonic epilepsy and GABRA1.

Cossette P, Lortie A, Vanasse M, Saint-Hilaire JM, Rouleau GA.

Adv Neurol. 2005;95:255-63. Review. No abstract available.

PMID:
15508928
11.

Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India.

Kapoor A, Vijai J, Ravishankar HM, Satishchandra P, Radhakrishnan K, Anand A.

J Genet. 2003 Apr-Aug;82(1-2):17-21.

12.

Mutations in EFHC1 cause juvenile myoclonic epilepsy.

Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K.

Nat Genet. 2004 Aug;36(8):842-9. Epub 2004 Jul 18.

PMID:
15258581
13.

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.

Bailey JN, Patterson C, de Nijs L, Durón RM, Nguyen VH, Tanaka M, Medina MT, Jara-Prado A, Martínez-Juárez IE, Ochoa A, Molina Y, Suzuki T, Alonso ME, Wight JE, Lin YC, Guilhoto L, Targas Yacubian EM, Machado-Salas J, Daga A, Yamakawa K, Grisar TM, Lakaye B, Delgado-Escueta AV.

Genet Med. 2017 Feb;19(2):144-156. doi: 10.1038/gim.2016.86. Epub 2016 Jul 28.

PMID:
27467453
14.

Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.

Subaran RL, Conte JM, Stewart WC, Greenberg DA.

Epilepsia. 2015 Feb;56(2):188-94. doi: 10.1111/epi.12864. Epub 2014 Dec 8.

15.

Neurophysiology of juvenile myoclonic epilepsy: EEG-based network and graph analysis of the interictal and immediate preictal states.

Clemens B, Puskás S, Besenyei M, Spisák T, Opposits G, Hollódy K, Fogarasi A, Fekete I, Emri M.

Epilepsy Res. 2013 Oct;106(3):357-69. doi: 10.1016/j.eplepsyres.2013.06.017. Epub 2013 Jul 22.

PMID:
23886656
16.

Electroclinical aspects and therapy of Han patients with juvenile myoclonic epilepsy in northern China.

Wang L, Jiang Z, Chen BB, Wang CT, Wang JX, Bai J, Wang B, Jin L, Zhang WJ, Deng YC, Zhao G, Dang JX, Wang D, Jia SS, Wang TC, Jia FY, Zhang L, Liu YH.

Epilepsy Behav. 2016 Sep;62:204-8. doi: 10.1016/j.yebeh.2016.07.011. Epub 2016 Aug 3.

PMID:
27494356
17.

Dynamics of sensorimotor cortex activation during absence and myoclonic seizures in a mouse model of juvenile myoclonic epilepsy.

Ding L, Gallagher MJ.

Epilepsia. 2016 Oct;57(10):1568-1580. doi: 10.1111/epi.13493. Epub 2016 Aug 30.

18.

Late-onset temporal lobe epilepsy in a patient with juvenile myoclonic epilepsy.

Lie OV, Holmes MD.

Epileptic Disord. 2012 Jun;14(2):190-4. doi: 10.1684/epd.2012.0500.

19.

The topographical distribution of epileptic spikes in juvenile myoclonic epilepsy with and without photosensitivity.

Bauer PR, Gorgels K, Spetgens W, van Klink NE, Leijten FS, Sander JW, Visser GH, Zijlmans M.

Clin Neurophysiol. 2017 Jan;128(1):176-182. doi: 10.1016/j.clinph.2016.10.098. Epub 2016 Nov 14.

PMID:
27912171
20.

Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.

de Nijs L, Wolkoff N, Grisar T, Lakaye B.

Epilepsy Behav. 2013 Jul;28 Suppl 1:S58-60. doi: 10.1016/j.yebeh.2012.06.034. Review.

PMID:
23756481

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