| EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk. | 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. | 02/2/2024 |
| Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients. | Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.
Saleem T, Mustafa A, Sheikh N, Mukhtar M, Irfan M, Suqaina SK., Free PMC Article | 05/29/2021 |
| Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy. | 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. | 05/1/2021 |
| EFHC1 mutations cause microtubule-associated defects in juvenile myoclonic epilepsy | Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.
Raju PK, Satishchandra P, Nayak S, Iyer V, Sinha S, Anand A. | 04/14/2018 |
| NHGRI gene-level evidence and variant-level evidence establish EFHC1 as the first non-ion channel microtubule-associated protein whose mutations disturb R-type VDCC and TRPM2 calcium currents in overgrown synapses and dendrites within abnormally migrated dislocated neurons, thus explaining CTC convulsions and "microdysgenesis" neuropathology of juvenile myoclonic epilepsy | 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. | 12/16/2017 |
| some EFHC1 mutations may be pathogenic only when introduced into specific genetic backgrounds to juvenile myoclonic epilepsy | Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran RL, Conte JM, Stewart WC, Greenberg DA., Free PMC Article | 05/9/2015 |
| Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to juvenile myclonic epilepsy. | Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.
de Nijs L, Wolkoff N, Grisar T, Lakaye B. | 02/1/2014 |
| Myoclonin1/EFHC1 mutation was suggested releated to juvenile myoclonic epilepsy. | The quest for juvenile myoclonic epilepsy genes.
Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM. | 02/1/2014 |
| These results show how Myoclonin1/EFHC1 mutations disrupt brain development and potentially produce structural brain abnormalities on which epileptogenesis is established. | 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., Free PMC Article | 04/13/2013 |
| we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of juvenile myoclonic epilepsy in Mexican patients. | 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. | 11/24/2012 |
| homozygous Phe229Leu mutation associated with primary intractable epilepsy in infancy | Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
Berger I, Dor T, Halvardson J, Edvardson S, Shaag A, Feuk L, Elpeleg O. | 10/27/2012 |
| The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death. | 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. | 06/9/2012 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL. | 04/7/2010 |
| The results of this study show that four coding SNPs, rs3804506, rs3804505, rs1266787, and rs17851770, of EFHC1 may not be susceptibility alleles for juvenile myoclonic epilepsy. | 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, 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., Free PMC Articles: PMC4607268, PMC4607268 | 01/21/2010 |
| Under reducing condition Ca(2+) or Mg(2+) ions bind to EFHC1C in a 1/1 molar ratio, while under oxidizing condition this ratio is reduced, showing that EFHC1C dimerization blocks Ca(2+) and Mg(2+) binding | Characterization of the C-terminal half of human juvenile myoclonic epilepsy protein EFHC1: dimer formation blocks Ca2+ and Mg2+ binding to its functional EF-hand.
Murai MJ, Sassonia RC, Zamboni AH, Conte FF, Martins-de-Souza D, Aparicio R, de Oliveira MG, Lopes-Cendes I. | 01/21/2010 |
| Nine percent of consecutive juvenile myoclonic epilepsy cases from Mexico and Honduras clinics and 3% of clinic patients from Japan carry mutations in Myoclonin1/EFCH1 | 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. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (4) articlesDNA 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, 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. 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. Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.
Norberg A, Forsgren L, Holmberg D, Holmberg M, Norberg A, Forsgren L, Holmberg D, Holmberg M. 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. | 03/13/2008 |
| Observational study of genotype prevalence. (HuGE Navigator) | 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. | 03/13/2008 |
| In this case of juvenile myoclonic epilepsy, A molecular genetic analysis led to the identification of a polymorphism (A-->G) in position 10 in the intron 3 (rs949626) of the EFHC1 gene. | 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. | 01/21/2010 |
| report presents one novel and one previously described mutation in the EFHC1 gene in Italian families, reinforcing the role of this gene in juvenile myoclonic epilepsy | 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. | 01/21/2010 |
| The combination of these polymorphisms could not be found in any control individuals, suggesting that they might be involved in genetic predisposition to migraine in this family. | Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.
Norberg A, Forsgren L, Holmberg D, Holmberg M, Norberg A, Forsgren L, Holmberg D, Holmberg M. | 01/21/2010 |
| Deletion analyses revealed that the N-terminal region of EFHC1 is crucial for the association with the mitotic spindle and the midbody. Our results suggest that EFHC1 could play an important role during cell division. | 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. | 01/21/2010 |
| Mutations in the EFHC1 gene may underlie different types of epilepsy syndromes. | Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A. | 01/21/2010 |
| We found no evidence that EFHC1 is a major genetic risk factor for JME susceptibility in Dutch patients. | 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. | 01/21/2010 |