NeuroGenetics and Physiology


Research center

47 bld de l'Hôpital
75651 Paris
Alexis Brice


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
Available to host a PhD student


Andreassen OA, et al. Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci. Mol Psychiatry. 2014 Jan 28. doi: 10.1038/mp.2013.195.

International Multiple Sclerosis Genetics Consortium. Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls. Brain. 2013 Jun;136(Pt 6):1778-82. doi: 10.1093/brain/awt101.

ImmunoChip study implicates antigen presentation to T cells in narcolepsy. Faraco J, Lin L, Kornum BR, Kenny EE, Trynka G, Einen M, Rico TJ, Lichtner P, Dauvilliers Y, Arnulf I, Lecendreux M, Javidi S, Geisler P, Mayer G, Pizza F, Poli F, Plazzi G, Overeem S, Lammers GJ, Kemlink D, Sonka K, Nevsimalova S, Rouleau G, Desautels A, Montplaisir J, Frauscher B, Ehrmann L, Högl B, Jennum P, Bourgin P, Peraita-Adrados R, Iranzo A, Bassetti C, Chen WM, Concannon P, Thompson SD, Damotte V, Fontaine B, Breban M, Gieger C, Klopp N, Deloukas P, Wijmenga C, Hallmayer J, Onengut-Gumuscu S, Rich SS, Winkelmann J, Mignot E, PLoS genetics, 2013 Feb.

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Böhm J, Chevessier F, Maués De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J, American journal of human genetics 2013-Feb-7.

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. Ben Ammar A, Soltanzadeh P, Bauché S, Richard P, Goillot E, Herbst R, Gaudon K, Huzé C, Schaeffer L, Yamanashi Y, Higuchi O, Taly A, Koenig J, Leroy JP, Hentati F, Najmabadi H, Kahrizi K, Ilkhani M, Fardeau M, Eymard B, Hantaï D. PloS one 2013-01

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.Debs R, Froissart R, Aubourg P, Papeix C, Douillard C, Degos B, Fontaine B, Audoin B, Lacour A, Saïd G, Vanier MT, Sedel F. Journal of inherited metabolic disease 2012-Nov-30

Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis.Babron MC, Perdry H, Handel AE, Ramagopalan SV, Damotte V, Fontaine B, Müller-Myhsok B, Ebers GC, Clerget-Darpoux F. European journal of human genetics : EJHG. 2012-Mar.

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.