Serratosa, José

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémié, T., Afrikanova, T., Gormley, P., et al. (2013) · The American Journal of Human Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 219

Cortical myoclonus in angelman syndrome

Guerrini, R., Bonanni, P., de Lorey, T. M., Serratosa, J. M., Moncla, A., Malzac, P., Dravet, C., Igvet, M. O., Bureau, M., Genton, P., et al. (1996) · Annals of Neurology

Genetic Syndromes and ImprintingEpilepsy research and treatment

Cited by 142

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy

Hedrich, U. B. S., Lauxmann, S., Wolff, M., Synofzik, M., Bast, T., Binelli, A., Serratosa, J. M., Martínez-Ulloa, P., Allen, N. M., King, M. D., et al. (2021) · Science Translational Medicine

Ion channel regulation and functionEpilepsy research and treatment

Cited by 87

Tau-induced pathology in epilepsy and dementia: notions from patients and animal models.

Sánchez, M., García-Cabrero, A., Sánchez-Elexpuru, G., Burgos, D., & Serratosa, J. (2018) · International Journal of Molecular Sciences

Alzheimer's disease research and treatmentsEpilepsy research and treatment

Cited by 68

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation

Gómez-Garre, P., Seijo, M., Gutiérrez-Delicado, E., Castro del Río, M., de la Torre, C., Gómez-Abad, C., Morales-Corraliza, J., Puig, M., & Serratosa, J. M. (2006) · Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 46