OUR most RECENT PUBLICATIONS (2021)

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Analysis of astroglial secretomic profile in the Mecp2-deficient male mouse model of Rett syndrome.

Ehinger Y, Matagne V, Cunin V, Borloz E, Sève M, Bourgoin-Voilard S, Borges-Correia A, Villard L, Roux JC.

International Journal of Molecular Sciences, 2021, in press.


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.


Bi-allelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures and joint anomalies.

Iqbal M, Cavdarli B, Riccardi F, Li Y, Baig SM, Dyment D, Abdullah U, Ul Haq Makhdoom E, Ali Z, Scherf de Almeida T, Molinari F, Ravix C, Chabrol B, Khan S, Jameel M, Noegel AA, Budde B, Höhne W, Nümberg P, Wollnik B, Villard L, Osmond M, Hussain MS, Yigit G.

Genetics in Medicine, 2021, in press.


A large consanguineous family with a homozygous metabotropic glutamate receptor 7 (mGluR7) variant and developmental epileptic encephalopathy: effect on protein structure and ligand affinity.

Ben Jdila M, Ravix C, Ben Ncir S, Kammoun F, Fakhfakh F, Villard L, Triki C.

Orphanet Journal of Rare Diseases, 2021, in press.


Rett syndrome: think outside the (skull) box.

Borloz E, Villard L, Roux JC.

Faculty Reviews, 2021, in press.


CACNA1A-associated epilepsy: electroclinical findings and treatment response on seizures in 18 patients.

Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Hirsch E, de Saint Martin A, des Portes V, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermesch AI, Altuzarra C, Nguyen MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Tournier-Lasserve E, Riant F, Van Bogaert P.

European Journal of Paediatric Neurology, 2021, in press.


Expansion of the genotypic and phenotypic spectrum of WASF1-related neurodevelopmental disorder.

Srivastava S, Macke E, Swanson L, Coulter D, Klee EW, Mullegama S, Xie Y, Lanpher B, Bedoukian E, Skraban C, Villard L, Milh M, Leppert M, Cohen JS.

Brain Sciences, 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.