Job ID: 116696

Pathological mechanisms and gene therapy in SCN2A mouse models of neurodevelopmental disorders

Position: Post-doctoral Position

Deadline: 24 October 2023

Employment Start Date: 1 December 2023

Contract Length: 12 months (renewable for up to 36 months

City: Valbonne - Sophia Antipolis

Country: France

Institution: CNRS and University Cote d'Azur

Department: Institute of Molecular and Cellular Pharmacology


Post-doctoral researcher (candidates have to apply here: working on research projects focused on neurodevelopmental disorders and epilepsy linked to mutations of the SCN2A gene (Nav1.2 sodium channel). Voltage-dependent sodium channel mutations have been implicated in different types of severe neurodevelopmental disorders, including developmental and epileptic encephalopathies (DEEs) (Mantegazza et al., 2021, Physiological Reviews; Guerrini et al 2023 Physiological Reviews ; Rusina et al 2023 JNeurochem Mutations in the SCN2A gene cause a particularly broad phenotypic spectrum. In particular, mutations “loss of function” can cause either DEE or Autism Spectrum Disorder (ASD) without epilepsy, and their differential pathological mechanism is not yet clear. We characterized a murine knock-out model (Lena et al 2019 Scientific Rep. 9:12886), which models «loss of function» mutations. Importantly, our more recent studies have allowed us to identify in vitro a new specific mechanism of SCN2A ASD mutations, and we have generated a knock-in mouse model of one of these mutations that we are characterizing.
The general objectives of the research project are: 1) to develop treatments by directly targeting the new mechanism that we have identified (including with gene therapy approaches) or by targeting the loss of function more generally; 2) test the effects of treatments on mouse phenotype, comparing knock-in and knock-out models.


– Gene therapy in mice: intracerebral injections of AAV viral vectors
– Pharmacological treatments in mice.
– Mouse behavioural tests to quantify cognitive functions, motor skills, social interactions (including Live Mouse Tracker), etc.
– Perform interventions in mice such as: cerebral stereotaxy surgery, injections, sampling, marking.
– Chronic video-EEG recordings in mice and signal analysis.
– Formatting of results and statistical analysis.
– Literature monitoring and improvement/adaptation of techniques and analyses according to research projects.


– Behavioral experiments in mice.
– Brain surgery, (electrode implantation, virus injection in mice).
– Data analysis: statistical analysis, signal analysis (EEG).
– Training in animal experiments and surgery.
– Organizational skills, rigor and method, motivation, autonomy.

The Institute of Molecular and Cellular Pharmacology is a joint research unit of the CNRS and the Université Côte d’Azur (220 people, 8000 m2 of buildings). Its 20 research teams benefit from a high-level technological environment in integrative biology, electrophysiology, molecular and cellular biology, imaging, cytometry, biomolecules analysis, functional genomics. In particular, the common technical platforms for animal testing allow detailed phenotyping of mice.