Elsa Rossignol

6PUBLICATIONS
17CO-AUTHORS
Aboriginal and Torres Strait Islander mothers and babies health and wellbeingEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
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Publications (6)

|Aug 08, 2026
Understanding Caregivers' Experiences of Rett Syndrome: A Multinational Study of Symptoms and Meaningful Outcomes of Potential Treatments.

|Sep 02, 2025
Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy.

Afitz Da Silva, Samuel Boris Tene Tadoum, Irena J J Muffels

|Sep 19, 2024
Both GEF domains of the autism and developmental epileptic encephalopathy-associated Trio protein are required for proper tangential migration of GABAergic interneurons.

Lara Eid, Ludmilla Lokmane, Praveen K Raju

|Jun 15, 2021
Reversing frontal disinhibition rescues behavioural deficits in models of CACNA1A-associated neurodevelopment disorders.

Alexis Lupien-Meilleur, Xiao Jiang, Mathieu Lachance

|Dec 06, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.

Amy L Schneider, Candace T Myers, Alison M Muir

|Aug 31, 2019
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.

Xiao Jiang, Praveen K Raju, Nazzareno D'Avanzo

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Frequent Collaborators

3 joint publications

Jean-Claude Lacaille

1 joint publications

Amy L Schneider

1 joint publications

Alison M Muir

1 joint publications

M Scott Perry