PUBLICATIONS

ePHYS scientific outputs lead to co-authorship publications

2024

Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy Théo Ribierre, Alexandre Bacq , Florian Donneger, Marion Doladilhe, Marina Maletic, Delphine Roussel , Isabelle Le Roux, Francine Chassoux, Bertrand Devaux, Homa Adle-Biassette, Sarah Ferrand-Sorbets, Georg Dorfmüller, Mathilde Chipaux, Sara Baldassari, Jean-Christophe Poncer, Stéphanie Baulac  Nat Neurosci. 2024 27(6):1125-1136.

2023

Neurofilament accumulations in amyotrophic lateral sclerosis patients’ motor neurons impair axonal initial segment integrity. Lefebvre-Omar C, Liu E, Dalle C, d’Incamps BL, Bigou S, Daube C, Karpf L, Davenne M, Robil N, Jost Mousseau C, Blanchard S, Tournaire G, Nicaise C, Salachas F, Lacomblez L, Seilhean D, Lobsiger CS, Millecamps S, Boillée S, Bohl D. Cell Mol Life Sci. 2023 15;80(6):150.

The temporal balance between self-renewal and differentiation of human neural stem cells requires the amyloid precursor protein. Shabani K, Pigeon J, Benaissa Touil Zariouh M, Liu T, Saffarian A, Komatsu J, Liu E, Danda N, Becmeur-Lefebvre M, Limame R, Bohl D, Parras C, Hassan BA. Sci Adv. 2023 16;9(24).

C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice Lopez-Herdoiza MB, Bauché S, Wilmet B, Le Duigou C, Roussel D, Frah M, Béal J, Devely G, Boluda S, Frick P, Bouteiller D, Dussaud S, Guillabert P, Dalle C, Dumont M, Camuzat A, Saracino D, Barbier M, Bruneteau G, Ravassard P, Neumann M, Nicole S, Le Ber I, Brice A, Latouche M. Front Cell Neurosci. 2023 17;17:1155929.

Repurposing of cholesterol-lowering agents in status epilepticus: A neuroprotective effect of simvastatin. Hanin A, Roussel D, Lecas S, Baudin P, Navarro V. Epilepsy Behav. 2023 141:109133.

In Vivo Injection of Anti-LGI1 Antibodies into the Rodent M1 Cortex and Hippocampus Is Ineffective in Inducing Seizures. Baudin P, Roussel D, Mahon S, Charpier S, Navarro V eNeuro.2023 13;10(3):ENEURO.0267-22.2023.

2022

The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis. Teyssou E, Chartier L, Roussel D, Perera ND, Nemazanyy I, Langui D, Albert M, Larmonier T, Saker S, Salachas F, Pradat PF, Meininger V, Ravassard P, Côté F, Lobsiger CS, Boillée S, Turner BJ, Seilhean D, Millecamps S. Int J Mol Sci. 2022 May 19;23(10):5694.

Kv1.1 channels inhibition in the rat motor cortex recapitulates seizures associated with anti-LGI1 encephalitis. Baudin P, Whitmarsh S, Cousyn L, Roussel D, Lecas S, Lehongre K, Charpier S, Mahon S, Navarro V. Prog Neurobiol. 2022 Jun;213:102262. 

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome. X. Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C. Nat Commun. 2022 Nov 2;13(1):6570. 

Edinger-Westphal peptidergic neurons enable maternal preparatory nesting. Topilko T, Diaz SL, Pacheco CM, Verny F, Rousseau CV, Kirst C, Deleuze C, Gaspar P, Renier N. Neuron. 2022 Feb 1:S0896-6273(22)00048-4.

Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy. Bacq A, Roussel D, Bonduelle T, Zagaglia S, Maletic M, Ribierre T, Adle-Biassette H, Marchal C, Jennesson M, An I; Genomics England Research Consortium, Picard F, Navarro V, Sisodiya SM, Baulac S. Ann Neurol. 2022 Jan;91(1):101-116.

2021

Microglia-neuron interaction at nodes of Ranvier depends on neuronal activity through potassium release and contributes to remyelination. Ronzano R, Roux T, Thetiot M, Aigrot MS, Richard L, Lejeune FX, Mazuir E, Vallat JM, Lubetzki C, Desmazières A. Nat Commun. 2021 Sep 1;12(1):5219.

Disturbances of brain cholesterol metabolism: A new excitotoxic process associated with status epilepticus. Hanin A, Baudin P, Demeret S, Roussel D, LecasS, Teyssou E, Damiano M, Luis D, Lambrecq V, Frazzini V, Decavèle M, Plu I, Bonnefont-Rousselot D, Bittar R, Lamari F, Navarro V; Study Group. NeurobiolDis. 2021 Jul;154:105346.

2020

A calibrated optogenetic toolbox of stable zebrafish opsin lines. Antinucci P, Dumitrescu A, Deleuze C, Morley HJ, Leung K, Hagley T, Kubo F, Baier H, Bianco IH, Wyart C. Elife 2020 Mar 27;9.

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Gaudio DD, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou JamraR, Weckhuysen S, Dalle C, Depienne C. Brain. 2020 Dec 1;143(12):3564-3573.

3-O-sulfated heparan sulfate interactors target synaptic adhesion molecules from neonatal mouse brain and inhibit neural activity and synaptogenesis in vitro. Maïza A, Sidahmed-Adrar N, Michel PP, Carpentier G, Habert D, Dalle C, Redouane W, Hamza M, van Kuppevelt TH, Ouidja MO, Courty J, Chantepie S, Papy-Garcia D, Stettler OSci Rep. 2020 Nov 5;10(1):19114.

Multiple sclerosis iPS-derived oligodendroglia conserve their properties to functionally interact with axons and glia in vivo. Mozafari S, Starost L, Manot-Saillet B, Garcia-Diaz B, Xu YKT, Roussel D, Levy MJF, Ottoboni L, Kim KP, Schöler HR, Kennedy TE, Antel JP, Martino G, Angulo MC, Kuhlmann T, Baron-Van Evercooren A. Sci Adv. 2020 Dec 4;6(49):eabc6983.

2019

New role of P2X7 receptor in an Alzheimer’s disease mouse model. Martin E, Amar M, Dalle C, Youssef I, Boucher C, Le Duigou C, Brückner M, Prigent A, Sazdovitch V, Halle A, Kanellopoulos JM, Fontaine B, Delatour B, Delarasse C.  Mol Psychiatry, 2019 Jan;24(1):108-125.

2018

Depdc5 knockout rat: A novel model of mTORopathy. Marsan E, Ishida S, Schramm A, Weckhuysen S, Muraca G, Lecas S, Liang N, Treins C, Pende M, Roussel D, Le Van Quyen M, Mashimo T, Kaneko T, Yamamoto T, Sakuma T, Mahon S, Miles R, Leguern E, Charpier S, Baulac S.  Neurobiol Dis. 2016 May;89:180-9.

causes focal cortical dysplasia-associated epilepsy. Ribierre T, Deleuze C, Bacq A, Baldassari S, Marsan E, Chipaux M, Muraca G, Roussel D, Navarro V, Leguern E, Miles R, Baulac S. J Clin Invest. 2018 Jun 1;128(6):2452-2458.

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.Ribierre T, Deleuze C, Bacq A, Baldassari S, Marsan E, Chipaux M, Muraca G, Roussel D, Navarro V, Leguern E, Miles R, Baulac S. J Clin Invest. 2018 Jun 1;128(6):2452-2458.

A204E mutation in Na(v)1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs. Kokunai Y, Dalle C, Vicart S, Sternberg D, Pouliot V, Bendahhou S, Fournier E, Chahine M, Fontaine B, Nicole S. Sci Rep. 2018 Nov 12;8(1):16681.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM,Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P,Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Brain 2018 Nov 1;141(11):3160-3178.

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish. de Calbiac H, Dabacan A, Marsan E, Tostivint H, Devienne G, Ishida S, Leguern E, Baulac S, Muresan RC, Kabashi E, Ciura S.  Ann Clin Transl Neurol. 2018 Apr 6;5(5):510-523.

2016

The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations. Gautier CA, Erpapazoglou Z, Mouton-Liger F, Muriel MP, Cormier F, Bigou S, Duffaure S, Girard M, Foret B, Iannielli A, Broccoli V, Dalle C, Bohl D, Michel PP, Corvol JC, Brice A, Corti O. Hum Mol Genet. 2016 Jul 15;25(14):2972-2984.

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. Kato H, Kokunai Y, Dalle C, Kubota T, Madokoro Y, Yuasa H, Uchida Y, Ikeda T, Mochizuki H, Nicole S, Fontaine B, Takahashi MP, Mitake S. J Neurol Sci. 2016 Oct 15;369:254-258.

2014

De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium, Haaf T, LeGuern E, Depienne C.  Nat Genet. 2014 Jun;46(6):640-5.