Gene Review:
EFHC1 - EF-hand domain (C-terminal) containing 1
Homo sapiens
Synonyms:
EF-hand domain-containing protein 1, EJM1, FLJ10466, Myoclonin-1, dJ304B14.2
- 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. Neurosci. Lett. (2006)
- 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, K.P., Steinlein, O.K. Epilepsy Res. (2005)
- 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, T.M., Meitinger, T., Zimprich, F., Zimprich, A. Neurology (2006)
- Mutations in EFHC1 cause juvenile myoclonic epilepsy. Suzuki, T., Delgado-Escueta, A.V., Aguan, K., Alonso, M.E., Shi, J., Hara, Y., Nishida, M., Numata, T., Medina, M.T., Takeuchi, T., Morita, R., Bai, D., Ganesh, S., Sugimoto, Y., Inazawa, J., Bailey, J.N., 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)
- 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, A.V., Grisar, T., Chanas, G. Exp. Cell Res. (2006)
- 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, G.J., Trenit??, D.G., Lindhout, D., Koeleman, B.P. Epilepsia (2006)
- Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy. Suzuki, T., Delgado-Escueta, A.V., Alonso, M.E., Morita, R., Okamura, N., Sugimoto, Y., Bai, D., Medina, M.T., Bailey, J.N., Rasmussen, A., Ramos-Peek, J., Cordova, S., Rubio-Donnadieu, F., Ochoa, A., Jara-Prado, A., Inazawa, J., Yamakawa, K. Neurosci. Lett. (2006)