Djémié, Tania

The phenotypic spectrum of SCN8A encephalopathy

Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., et al. (2015) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 285

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

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

Dejanovic, B., Djémié, T., Grünewald, N., Suls, A., Kress, V., Hetsch, F., Craiu, D., Zemel, M., Gormley, P., Lal, D., et al. (2015) · EMBO Molecular Medicine

Neuroscience and Neuropharmacology ResearchEpilepsy research and treatment

Cited by 49

Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy

Macha, A., Liebsch, F., Fricke, S., Hetsch, F., Neuser, F., Johannes, L., Kress, V., Djémié, T., Santamaria-Araujo, J. A., Vilain, C., et al. (2022) · Human Molecular Genetics

Epilepsy research and treatmentNeuroscience and Neuropharmacology Research

Cited by 10