nos publications LES PLUS récentes (2020-2021)

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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

Whalen S, Shaw M, Mignot C, Héron D, Chantot Bastaraud S, Cieuta Walti C, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Mauro Spinelli A, Calabrese O, Billette de Villemeur T, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rotchschild A, Pini A, Carroll R, Hartley J, Frosk P, Slavotinek A, Truxal K, Carroll J, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L.

European Journal of Human Genetics, 2021, in press.


Patients with KCNH1-related intellectual disability without distinctive features of Zimmerman-Laband / Temple-Baraitser syndrome.

Aubert Mucca M, Patat O, Whalen S, Arnaud L, Barcia G, Buratti J, Doummar D, Karsenty C, Kenis S, Le Guern E, Lesca G, Nava C, Piton A, Valence S, Villard L, Weckhuysen S, Keren B, Mignot C.

Journal of Medical Genetics, 2021, in press.


SYNGAP1-DEE: a visual sensitive epilepsy.

Lo Barco T, Kaminska A, Solazzi R, Cancès C, Barcia G, Chemaly N, Fontana E, Desguerre I, Canafoglia L, Hachon Le Camus C, Losito E, Villard L, Eisermann M, Dalla Bernardina B, Villeneuve N, Nabbout R.

Clinical Neurophysiology, 2021, in press.


Severe off-target effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome.

Matagne V, Borloz E, Ehinger Y, Saidi L, Villard L, Roux JC.

Neurobiology of Disease, 2021, 149:105235.


The M-current works in tandem with the persistent sodium current to set the speed of locomotion.

Verneuil J, Brocard C, Trouplin V, Villard L, Peyronnet-Roux J, Brocard F.

PLOS Biology, 2020, 18:e3000738.


A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.

Milh M, Roubertoux P, Biba N, Chavany J, Spiga Ghata A, Fulachier C, Collins SC, Wagner C, Roux JC, Yalcin B, Félix MS, Molinari F, Lenck-Santini PP, Villard L.

Epilepsia, 2020, 61:868-878.


Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice.

Ehinger Y, Bruyere J, Panayotis N, Abada YS, Borloz E, Matagne V, Scaramuzzino C, Vitet H, Delatour B, Saidi L, Villard L, Saudou F, Roux JC.

EMBO Molecular Medicine, 2020, 12:e10889.


Molecular characterization of a 1p36 chromosomal rearrangement and in utero interference define ENO1 as a candidate gene for polymicrogyria.

El Waly B, Mignon-Ravix C, Cacciagli P, Buhler E, ben Zeev B, Villard L.

European Journal of Human Genetics, 2020, sous presse.


Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

Trivisano M, Ferretti A, Bebin EM, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Jung J, Kikuchi A, Kobayashi T, Lagae L, Mathieu ML, Milh M, Minassian BA, Novelli A, Pietrafusa N, Scheffer I, Shi RM, Takeshita E, Tartaglia M, Terracciano A, Thompson ML, Vigevano F, Villard L, Villeneuve N, Buyse GM, Demos M, Berkovic S, Specchio N.

Epilepsia, 2020, 61:e71-e78.


Early-onset epileptic encephalopathy related to germline PIGA mutations: a series of 5 cases.

El Cabasson S, Van-Gils J, Villéga F, Abi-Warde MT, Barcia G, Lazaro L, Cancès C, Chelly J, Karsenty C, Rivera S, De Saint-Martin A, Trimouille A, Villard L, Pédespan JM.

European Journal of Paediatric Neurology, 2020, 28:214-220.