Rossignol, Elsa

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., et al. (2017) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 445

The Cell-Intrinsic Requirement of Sox6 for Cortical Interneuron Development

Batista-Brito, R., Rossignol, E., Hjerling-Leffler, J., Denaxa, M., Wegner, M., Lefebvre, V., Pachnis, V., & Fishell, G. (2009) · Neuron

Neurogenesis and neuroplasticity mechanismsDevelopmental Biology and Gene Regulation

Cited by 214

Satb1 is an activity-modulated transcription factor required for the terminal differentiation and connectivity of medial ganglionic eminence-derived cortical interneurons

Close, J., Xu, H., De Marco García, N., Batista-Brito, R., Rossignol, E., Rudy, B., & Fishell, G. (2012) · The Journal of Neuroscience

Neurogenesis and neuroplasticity mechanismsNeuroscience and Neuropharmacology Research

Cited by 141

Recessive mutations in VPS13D cause childhood onset movement disorders

Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., et al. (2018) · Annals of Neurology

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 127

CaV2.1 ablation in cortical interneurons selectively impairs fast‐spiking basket cells and causes generalized seizures

Rossignol, E., Kruglikov, I., van den Maagdenberg, A. M. J. M., Rudy, B., & Fishell, G. (2013) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 112

Both gain‐of‐function and loss‐of‐function de novo CACNA 1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome

Jiang, X., Raju, P. K., D'Avanzo, N., Lachance, M., Pepin, J., Dubeau, F., Mitchell, W. G., Bello‐Espinosa, L. E., Pierson, T. M., Minassian, B. A., et al. (2019) · Epilepsia

Epilepsy research and treatmentIon channel regulation and function

Cited by 97

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Finelli, M. J., Aprile, D., Castroflorio, E., Jeans, A., Moschetta, M., Chessum, L., Degiacomi, M. T., Grasegger, J., Lupien-Meilleur, A., Bassett, A., et al. (2019) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 62

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

Perrault, I., Hamdan, F. F., Rio, M., Capo-Chichi, J.-M., Boddaert, N., Décarie, J.-C., Maranda, B., Nabbout, R., Sylvain, M., Lortie, A., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 50