10 results for author:"Claes L.R." in Literature citations
Results Customize
› Repeat search in UniProtKB (3)
| KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Weckhuysen S., Mandelstam S., Suls A., Audenaert D., Deconinck T., Claes L.R., Deprez L., Smets K., Hristova D., Yordanova I. et al. Ann. Neurol. 71:15-25(2012) · Mapped (10) |
| Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene. Suls A., Velizarova R., Yordanova I., Deprez L., Van Dyck T., Wauters J., Guergueltcheva V., Claes L.R., Kremensky I., Jordanova A. et al. Neurology 75:72-76(2010) · Mapped (7) |
| Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Suls A., Mullen S.A., Weber Y.G., Verhaert K., Ceulemans B., Guerrini R., Wuttke T.V., Salvo-Vargas A., Deprez L., Claes L.R. et al. |
| A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. Singh N.A., Pappas C., Dahle E.J., Claes L.R., Pruess T.H., De Jonghe P., Thompson J., Dixon M., Gurnett C., Peiffer A. et al. PLoS Genet. 5:E1000649-E1000649(2009) · UniProtKB (1) · Mapped (12) |
| A functional null mutation of SCN1B in a patient with Dravet syndrome. Patino G.A., Claes L.R., Lopez-Santiago L.F., Slat E.A., Dondeti R.S., Chen C., O'Malley H.A., Gray C.B., Miyazaki H., Nukina N. et al. J. Neurosci. 29:10764-10778(2009) · Mapped (5) |
| The SCN1A variant database: a novel research and diagnostic tool. Claes L.R., Deprez L., Suls A., Baets J., Smets K., Van Dyck T., Deconinck T., Jordanova A., De Jonghe P. Hum. Mutat. 30:E904-20(2009) · Mapped (7) |
| Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Suls A., Dedeken P., Goffin K., Van Esch H., Dupont P., Cassiman D., Kempfle J., Wuttke T.V., Weber Y., Lerche H. et al. Brain 131:1831-1844(2008) · Mapped (6) |
| Epilepsy as part of the phenotype associated with ATP1A2 mutations. Deprez L., Weckhuysen S., Peeters K., Deconinck T., Claeys K.G., Claes L.R., Suls A., Van Dyck T., Palmini A., Matthijs G. et al. Epilepsia 49:500-508(2008) · Mapped (11) |
| De novo KCNQ2 mutations in patients with benign neonatal seizures. Claes L.R., Ceulemans B., Audenaert D., Deprez L., Jansen A., Hasaerts D., Weckx S., Claeys K.G., Del-Favero J., Van Broeckhoven C. et al. Neurology 63:2155-2158(2004) · Mapped (10) |
| Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Ceulemans B.P.G.M., Claes L.R.F., Lagae L.G. Pediatr. Neurol. 30:236-243(2004) · UniProtKB (1) · Mapped (6) |