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Items: 1 to 20 of 107

1.

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.

2.

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
3.

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.

Pinto D, Louwaars S, Westland B, Volkers L, de Haan GJ, Trenité DG, Lindhout D, Koeleman BP.

Epilepsia. 2006 Oct;47(10):1743-6.

4.

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.

5.

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):1686-90. Epub 2007 Jul 18.

6.

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
7.

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
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.

A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.

Gu W, Sander T, Heils A, Lenzen KP, Steinlein OK.

Epilepsy Res. 2005 Aug-Sep;66(1-3):91-8.

PMID:
16112844
11.

Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy.

Izzi C, Barbon A, Toliat MR, Heils A, Becker C, Nürnberg P, Sander T, Barlati S.

Am J Med Genet B Neuropsychiatr Genet. 2003 Nov 15;123B(1):59-63.

PMID:
14582146
12.

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
13.

The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.

Katano M, Numata T, Aguan K, Hara Y, Kiyonaka S, Yamamoto S, Miki T, Sawamura S, Suzuki T, Yamakawa K, Mori Y.

Cell Calcium. 2012 Feb;51(2):179-85. doi: 10.1016/j.ceca.2011.12.011. Epub 2012 Jan 4.

PMID:
22226147
14.

BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy.

Pal DK, Evgrafov OV, Tabares P, Zhang F, Durner M, Greenberg DA.

Am J Hum Genet. 2003 Aug;73(2):261-70. Epub 2003 Jun 25.

15.

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.

de Nijs L, Wolkoff N, Coumans B, Delgado-Escueta AV, Grisar T, Lakaye B.

Hum Mol Genet. 2012 Dec 1;21(23):5106-17. doi: 10.1093/hmg/dds356. Epub 2012 Aug 27.

16.

The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy.

Rozycka A, Steinborn B, Trzeciak WH.

Seizure. 2009 Oct;18(8):601-3. doi: 10.1016/j.seizure.2009.06.007. Epub 2009 Jul 3.

17.

Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up.

Martínez-Juárez IE, Alonso ME, Medina MT, Durón RM, Bailey JN, López-Ruiz M, Ramos-Ramírez R, León L, Pineda G, Castroviejo IP, Silva R, Mija L, Perez-Gosiengfiao K, Machado-Salas J, Delgado-Escueta AV.

Brain. 2006 May;129(Pt 5):1269-80. Epub 2006 Mar 6.

PMID:
16520331
18.

Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.

Raju PK, Satishchandra P, Nayak S, Iyer V, Sinha S, Anand A.

Hum Mutat. 2017 Jul;38(7):816-826. doi: 10.1002/humu.23221. Epub 2017 May 2.

PMID:
28370826
19.

EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.

de Nijs L, Lakaye B, Coumans B, Léon C, Ikeda T, Delgado-Escueta AV, Grisar T, Chanas G.

Exp Cell Res. 2006 Sep 10;312(15):2872-9. Epub 2006 May 26.

PMID:
16824517
20.

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.

Suzuki T, Delgado-Escueta AV, Alonso ME, Morita R, Okamura N, Sugimoto Y, Bai D, Medina MT, Bailey JN, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Ochoa A, Jara-Prado A, Inazawa J, Yamakawa K.

Neurosci Lett. 2006 Sep 11;405(1-2):126-31. Epub 2006 Jul 28.

PMID:
16876319

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