Mathilde Gras

6PUBLICATIONS
106CO-AUTHORS
Electrical energy transmission, networks and systemsAutonomic nervous systemNeurology and neuromuscular diseasesAged care nursingDevelopmental genetics (incl. sex determination)
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Publications (6)

|Jul 15, 2026
Expanding the phenotypic and genotypic spectrum of KCNT1-related epilepsies.

|Apr 10, 2026
Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.

Rasha Faraj, Audrey Farrugia, Anna C E Hurst

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Apr 16, 2025
"Oldest Old" Attending Psychiatric Emergency Services: A Monocentric Retrospective Study.

Hugo Tiercelin, Mathilde Gras, Jérôme Silva

|Aug 02, 2024
Efficacy of anti-seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1-related epilepsy: A systematic review.

Mathilde Gras, David Bearden, Justin West

|Oct 25, 2023
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Mathilde Gras, Solveig Heide, Boris Keren

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Frequent Collaborators

2 joint publications

Gaetan Lesca

1 joint publications

Solveig Heide

1 joint publications

Anna C Jansen

1 joint publications

Katrien Stouffs