Baulac, Stéphanie

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Escayg, A., MacDonald, B. T., Meisler, M. H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., et al. (2000) · Nature Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 996

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 439

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Baldassari, S., Ribierre, T., Marsan, E., Adle-Biassette, H., Ferrand-Sorbets, S., Bulteau, C., Dorison, N., Fohlen, M., Polivka, M., Weckhuysen, S., et al. (2019) · Acta Neuropathologica

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 356

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

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Ishida, S., Picard, F., Rudolf, G., Noé, E., Achaz, G., Thomas, P., Genton, P., Mundwiller, E., Wolff, M., Marescaux, C., et al. (2013) · Nature Genetics

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 269

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

Ribierre, T., Deleuze, C., Bacq, A., Baldassari, S., Marsan, E., Chipaux, M., Muraca, G., Roussel, D., Navarro, V., Leguern, E., et al. (2018) · Journal of Clinical Investigation

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 241

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

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 100

mTOR signaling pathway genes in focal epilepsies

Baulac, S. (2016) · Progress in Brain Research

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 84

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis

Lee, W. S., Baldassari, S., Stephenson, S. E. M., Lockhart, P. J., Baulac, S., & Leventer, R. J. (2022) · International Journal of Molecular Sciences

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 45