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Heterogeneity of FHF1 related phenotype: novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset focal seizures without neurodegeneration.

Villeneuve N, Abidi A, Cacciagli P, Mignon-Ravix C, Chabrol B, Villard L, Milh M.

European Journal of Pediatric Neurology, 2017, 21:783-786.


Effect of desipramine on patients with breathing disorders in Rett syndrome.

Mancini J, Dubus JC, Jouve E, Roux JC, Lagrue E, Castelnau P, Cances C, Chaix Y, Rougeot Jung C, Desportes V, Franco P, Vallée L, Bahi-Buisson N, Truillet R, Villard L, Blin O, Micallef J.

Annals of Clinical and Translational Neurology, 2017, sous presse.


A codon optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome.

Matagne V, Ehinger Y, Saidi L, Borges-Correia A, Barkats M, Bartoli M, Villard L, Roux JC.

Neurobiology of Disease, 2017, 99:1-11.


Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaeffer E, Thauvin C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N.

American Journal of Medical Genetics A, 2016, 170:2847-2859.


A Kv7.2 mutation associated to early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.

Devaux J, Abidi A, Roubertie A, Molinari F, Becq H, Lacoste C, Villard L, Milh M, Aniksztejn L.

Epilepsia, 2016, 57:87-93.


Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the Ion Proton.

Lacoste C, Desvignes JP,  Salgado D, Pécheux C, Villard L, Bartoli M, Béroud C, Lévy N, Badens C, Krahn M.

Journal of Genetics, 2016, 95:203-208.


Early onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

Abidi A, Mignon-Ravix C, Cacciagli P, Girard N, Milh M, Villard L.

European Journal of Human Genetics, 2016, 24:615-618.