NeuroGenetics and Physiology

Research center

Hopital Pitie Salpetrière, 105 bd de l’Hôpital 75013 Paris


Université Pierre et Marie Curie
Université Pierre et Marie Curie


Phone: 01 42 16 19 61
UMRS 1127 UMR 7225
IHU A-ICM, Neuratris, Institut Carnot ICM


Alzheimer’s disease
Multiple Sclerosis
neuromuscular junction
human genetics


Roubergue A*, Roze E*, Vuillaumier-Barrot S, Fontenille MJ, Meneret A, Vidailhet M, Fontaine B, Doummar D, Philibert B, Riant F, Nicole S. “The Multiple Faces of the ATP1A3-Related Dystonic Movement Disorder.” Movement Disorders (2013).28(10):1457-9.

S. Nicole*, A. Chaouch*, T. Torbergsen*, S. Bauché, E. de Bruyckere, M-J. Fontenille, M. A. Horn, M. van Ghelue, S. Løseth, Y. Issop, D. Cox, J. S. Müller, T. Evangelista, E. Stålberg, C. Ioos, A. Barois, G. Brochier, D. Sternberg, E. Fournier, D. Hantaï, A. Abicht, M. Dusl, S. H. Laval, H. Griffin, B. Eymard* and H. Lochmüller*. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Brain (2014) 137:2429-4.

Habbout K; Poulin H*; Rivier F*; Giulliano S; Sternberg D; Fontaine B; Eymard B; Juntas Morales R; Echenne B; Chahine M; Nicole S* & Bendahhou S* “A recessive mutation of the skeletal muscle Na+ channel Nav1.4 underlays a complex phenotype combining CMS-with periodic paralysis”. Neurology (2016). 12;86:161-9.

S Bauché, S O’Regan, Y Azuma, F Laffargue, G McMacken, D Sternberg, G Brochier, C Buon, N Bouzidi, A Topf,E Lacène, G Remerand, AM Beaufrere, C Pebrel-Richard,, J Thevenon, S El Chehadeh-Djebbar, L Faivre, Y Duffourd, F Ricci, T Mongini, C Fiorillo, G Astrea, C M Burloiu, N Butoianu, C Sandu, L Servais, G Bonne, I Nelson, I Desguerre, M-C Nougues, B Bœuf, N Romero, J Laporte, A Boland, D Lechner, J-F Deleuze, B Fontaine, L Strochlic, H Lochmuller, B Eymard, M Mayer, S Nicole.Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. Am J Hum Genet (2016).99(3):753-61.

Nicole S, Fontaine B. Skeletal muscle sodium channelopathies. Current Opinion in Neurology (2015). 28(5):508-514.

Fields of research

Neurological and psychiatric diseases

Research Theme

We are a group with tight scientific links, interest and expertise, that focus on human diseases as natural conditions unraveling yet unknown biological mechanisms. We study pure monogenic diseases (neuromuscular excitability disorders) as well as more complex diseases including multiple sclerosis (MS) and Alzheimer?s disease (AD). Our projects lie on our long-standing international recognition in the clinical, genetics and pathophysiological analyses of these diseases and on international networks.

Our first aim is to identify still unknown molecules and related physiological mechanisms that are critical for the fine regulation of neuromuscular excitability. We focus on diseases with abnormal synaptic transmission (congenital myasthenic syndromes) and muscle excitability (channelopathies). We will search for new genes responsible for these diseases by high throughput sequencing of patients from our large cohort who do not display mutations in the known genes, and will study the neuromuscular function of the related molecules using cell and animal models.

Our second aim is to identify specific modulators of MS by combining genetics, immunology and neurobiology researches on human samples from the French Biological Resources Center (CRB-REFGENSEP) that we manage. It will contribute to understand how a combination of genetic polymorphisms leads to the immune attack of myelin and chronic lesions in MS.

Our last aim is to decipher the role of the ionotropic receptor P2X7R in AD. P2X7R activation induces the non-amyloidogenic processing of APP and plays a role in the release of pro-inflammatory cytokines. We will test the effects of inhibiting this receptor in a mouse model of AD using pharmacological and gene invalidation strategies, and will evaluate P2X7R pathway implication in AD genetic susceptibility.

We have a unique expertise in the comprehension of the neuromuscular system and in genetics of polyfactorial, multigenic diseases  in the research center, and will benefit from the facilities of the institute. Our projects will give clues for the understanding of physiological mechanisms critical for the immunological, glial, neuronal and muscular functions and will paves the way to medical application since they will identify new biomarkers and new therapeutic targets.