These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

240 related articles for article (PubMed ID: 25489633)

  • 1. 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. PubMed ID: 25489633
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 18823326
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 16839746
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy.
    Gonsales MC; Ribeiro PAO; Betting LE; Alvim MKM; Guerreiro CM; Yasuda CL; Gitaí DLG; Cendes F; Lopes-Cendes I
    Epilepsy Behav; 2020 Nov; 112():107469. PubMed ID: 33181902
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Commentary: Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
    Pal D; Helbig I
    Epilepsia; 2015 Feb; 56(2):195-6. PubMed ID: 25645277
    [No Abstract]   [Full Text] [Related]  

  • 6. 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. PubMed ID: 25625532
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 27467453
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 17054699
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.
    Saleem T; Mustafa A; Sheikh N; Mukhtar M; Irfan M; Suqaina SK
    Biomed Res Int; 2021; 2021():7509825. PubMed ID: 33969125
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 28370826
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 15258581
    [TBL] [Abstract][Full Text] [Related]  

  • 12. EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.
    Aslan-Kara K; Dündar-Yenilmez E; Ateş E; Alparslan MM; Peköz T; Bozdemir H; Tuli A
    Seizure; 2024 Jan; 114():79-83. PubMed ID: 38088014
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 66(1-3):91-8. PubMed ID: 16112844
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
    Marini C; Scheffer IE; Crossland KM; Grinton BE; Phillips FL; McMahon JM; Turner SJ; Dean JT; Kivity S; Mazarib A; Neufeld MY; Korczyn AD; Harkin LA; Dibbens LM; Wallace RH; Mulley JC; Berkovic SF
    Epilepsia; 2004 May; 45(5):467-78. PubMed ID: 15101828
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 17634063
    [TBL] [Abstract][Full Text] [Related]  

  • 16.
    Thounaojam R; Langbang L; Itisham K; Sobhani R; Srivastava S; Ramanujam B; Verma R; Tripathi M; Aguan K
    Epilepsia Open; 2017 Mar; 2(1):84-89. PubMed ID: 29750216
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 22727576
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 23756481
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 70(22 Pt 2):2137-44. PubMed ID: 18505993
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 22226147
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.