Elsa Rossignol
Elsa Rossignol
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High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...
The American Journal of Human Genetics 101 (5), 664-685, 2017
The cell-intrinsic requirement of Sox6 for cortical interneuron development
R Batista-Brito, E Rossignol, J Hjerling-Leffler, M Denaxa, M Wegner, ...
Neuron 63 (4), 466-481, 2009
Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders
E Rossignol
Neural plasticity 2011, 2011
The genetic landscape of infantile spasms
JL Michaud, M Lachance, FF Hamdan, L Carmant, A Lortie, P Diadori, ...
Human molecular genetics 23 (18), 4846-4858, 2014
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
L Damaj, A Lupien-Meilleur, A Lortie, É Riou, LH Ospina, L Gagnon, ...
European Journal of Human Genetics 23 (11), 1505-1512, 2015
Satb1 is an activity-modulated transcription factor required for the terminal differentiation and connectivity of medial ganglionic eminence-derived cortical interneurons
J Close, H Xu, NDM García, R Batista-Brito, E Rossignol, B Rudy, ...
Journal of Neuroscience 32 (49), 17690-17705, 2012
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy
JR Lee, M Srour, D Kim, FF Hamdan, SH Lim, C Brunel‐Guitton, ...
Human mutation 36 (1), 69-78, 2015
Recessive mutations in VPS13D cause childhood onset movement disorders
J Gauthier, IA Meijer, D Lessel, NE Mencacci, D Krainc, M Hempel, ...
Annals of neurology 83 (6), 1089-1095, 2018
CaV2.1 ablation in cortical interneurons selectively impairs fast‐spiking basket cells and causes generalized seizures
E Rossignol, I Kruglikov, AMJM Van Den Maagdenberg, B Rudy, G Fishell
Annals of neurology 74 (2), 209-222, 2013
Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy
X Jiang, M Lachance, E Rossignol
Progress in brain research 226, 81-126, 2016
Vagus nerve stimulation in pediatric epileptic syndromes
E Rossignol, A Lortie, T Thomas, A Bouthiller, D Scavarda, C Mercier, ...
Seizure 18 (1), 34-37, 2009
Natural history of vanishing white matter
EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ...
Annals of neurology 84 (2), 274-288, 2018
Opposing regulation of dopaminergic activity and exploratory motor behavior by forebrain and brainstem cholinergic circuits
JC Patel, E Rossignol, ME Rice, RP Machold
Nature communications 3 (1), 1172, 2012
Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox …
X Jiang, PK Raju, N D'Avanzo, M Lachance, J Pepin, F Dubeau, ...
Epilepsia 60 (9), 1881-1894, 2019
Mutations in ACTL6B cause neurodevelopmental deficits and epilepsy and lead to loss of dendrites in human neurons
S Bell, J Rousseau, H Peng, Z Aouabed, P Priam, JF Theroux, M Jefri, ...
The American Journal of Human Genetics 104 (5), 815-834, 2019
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians
N Dupré, N Chrestian, JP Bouchard, E Rossignol, D Brunet, D Sternberg, ...
Neuromuscular Disorders 19 (5), 330-334, 2009
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness
I Perrault, FF Hamdan, M Rio, JM Capo-Chichi, N Boddaert, JC Décarie, ...
The American Journal of Human Genetics 94 (6), 891-897, 2014
Evolution and treatment of childhood chronic inflammatory polyneuropathy
E Rossignol, G D’Anjou, N Lapointe, E Haddad, M Vanasse
Pediatric neurology 36 (2), 88-94, 2007
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C Mignot, AC McMahon, C Bar, PM Campeau, C Davidson, J Buratti, ...
Genetics in Medicine 21 (4), 837-849, 2019
A Gain‐of‐Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis
K Aoyagi, E Rossignol, FF Hamdan, B Mulcahy, L Xie, S Nagamatsu, ...
Human Mutation 36 (8), 753-757, 2015
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