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Page 1
RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. Talarico M, et al. Among authors: de bellescize j. Genet Med. 2024 Dec 17:101347. doi: 10.1016/j.gim.2024.101347. Online ahead of print. Genet Med. 2024. PMID: 39707840 Free article.
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.
Clara-Hwang A, Stefani S, Lau T, Scala M, Aynekin B, Bernardo P, Madia F, Bakhtadze S, Kaiyrzhanov R, Maroofian R, Zara F, Srinivasan VM, Gowda V, Guliyeva U, Montavont A, Poulat AL, Güleç A, Berger C, Ville DM, de Bellescize J, Cabet S, Wonneberger A, Schulz A, Rodriguez-Palmero A, Chatron N, Lesca G, Per H, Goel H, Brown J, Frey T, Steindl K, Rauch A, Severino M, Houlden H, Nicolaides P, Striano P, Efthymiou S. Clara-Hwang A, et al. Among authors: de bellescize j. Neurol Genet. 2024 Jul 11;10(4):e200168. doi: 10.1212/NXG.0000000000200168. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 39035822 Free PMC article.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: de bellescize j. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Miceli F, Millevert C, Soldovieri MV, Mosca I, Ambrosino P, Carotenuto L, Schrader D, Lee HK, Riviello J, Hong W, Risen S, Emrick L, Amin H, Ville D, Edery P, de Bellescize J, Michaud V, Van-Gils J, Goizet C, Willemsen MH, Kleefstra T, Møller RS, Bayat A, Devinsky O, Sands T, Korenke GC, Kluger G, Mefford HC, Brilstra E, Lesca G, Milh M, Cooper EC, Taglialatela M, Weckhuysen S. Miceli F, et al. Among authors: de bellescize j. EBioMedicine. 2022 Jul;81:104130. doi: 10.1016/j.ebiom.2022.104130. Epub 2022 Jun 30. EBioMedicine. 2022. PMID: 35780567 Free PMC article.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium; de Bellescize J, Villard L, De Saint Martin A, Milh M. Maillard PY, et al. Among authors: de bellescize j. Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13. Epilepsia. 2022. PMID: 35718920 Free PMC article. Review.
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
Arnaud L, Abi Warde MT, Barcia G, de Bellescize J, Chatron N, Faoucher M, de Saint Martin A, Héron D, Jedraszak G, Lacoste C, Lèbre AS, Jenneson-Lyver M, Labalme A, Leguern E, Mignot C, Milh M, Nabbout R, Nava C, Panagiotakaki E, Piton A, Schaefer E, Thevenon J, Villard L, Ville D, Lesca G. Arnaud L, et al. Among authors: de bellescize j. Eur J Med Genet. 2022 Mar;65(3):104445. doi: 10.1016/j.ejmg.2022.104445. Epub 2022 Jan 25. Eur J Med Genet. 2022. PMID: 35091117
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: de bellescize j. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
56 results