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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: villeneuve n. Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13. Epilepsia. 2022. PMID: 35718920 Free PMC article. Review.
[Epileptic seizures in childhood: from seizure type to diagnosis].
Milh M, Ticus I, Villeneuve N, Hugonencq C, Mancini J, Chabrol B. Milh M, et al. Among authors: villeneuve n. Arch Pediatr. 2008 Feb;15(2):216-22. doi: 10.1016/j.arcped.2007.11.007. Epub 2008 Jan 14. Arch Pediatr. 2008. PMID: 18248967 French.
[GLUT-1 deficiency syndrome or De Vivo disease: a case report].
Ticus I, Cano A, Villeneuve N, Milh M, Mancini J, Chabrol B. Ticus I, et al. Among authors: villeneuve n. Arch Pediatr. 2008 Aug;15(8):1296-9. doi: 10.1016/j.arcped.2008.04.024. Epub 2008 Jun 16. Arch Pediatr. 2008. PMID: 18556184 French.
The ketogenic diet improves recently worsened focal epilepsy.
Villeneuve N, Pinton F, Bahi-Buisson N, Dulac O, Chiron C, Nabbout R. Villeneuve N, et al. Dev Med Child Neurol. 2009 Apr;51(4):276-81. doi: 10.1111/j.1469-8749.2008.03216.x. Epub 2008 Feb 3. Dev Med Child Neurol. 2009. PMID: 19191829 Free article.
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E. Depienne C, et al. Among authors: villeneuve n. J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328. J Med Genet. 2010. PMID: 20522430 Free article.
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. Endele S, et al. Among authors: villeneuve n. Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890276
155 results