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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: lepine a. Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13. Epilepsia. 2022. PMID: 35718920 Free PMC article. Review.
[Epilepsy and mitochondrial diseases: retrospective study on 53 epileptic children].
Caietta E, Cano A, Halbert C, Hugonenq C, Mancini J, Milh M, Lépine A, Villeneuve N, Chaussenot A, Paquis-Flucklinger V, Chabrol B. Caietta E, et al. Among authors: lepine a. Arch Pediatr. 2012 Aug;19(8):794-802. doi: 10.1016/j.arcped.2012.05.004. Epub 2012 Jul 11. Arch Pediatr. 2012. PMID: 22789745 French.
Cortical involvement in focal epilepsies with epileptic spasms.
de la Vaissière S, Milh M, Scavarda D, Carron R, Lépine A, Trébuchon A, Gavaret M, Hewett R, Laguitton V, Daquin G, Villeneuve N, Bartolomei F. de la Vaissière S, et al. Among authors: lepine a. Epilepsy Res. 2014 Nov;108(9):1572-80. doi: 10.1016/j.eplepsyres.2014.08.008. Epub 2014 Aug 30. Epilepsy Res. 2014. PMID: 25212728
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium. Panagiotakaki E, et al. Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5. Orphanet J Rare Dis. 2015. PMID: 26410222 Free PMC article.
Severe neonatal seizures: From molecular diagnosis to precision therapy?
Milh M, Cacciagli P, Ravix C, Badens C, Lépine A, Villeneuve N, Villard L. Milh M, et al. Among authors: lepine a. Rev Neurol (Paris). 2016 Mar;172(3):171-3. doi: 10.1016/j.neurol.2016.02.005. Epub 2016 Mar 15. Rev Neurol (Paris). 2016. PMID: 26993565 Review.
Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study.
Lagarde S, Villeneuve N, Trébuchon A, Kaphan E, Lepine A, McGonigal A, Roubertie A, Barthez MA, Trommsdorff V, Lefranc J, Wehbi S, des Portes V, Laguitton V, Quartier P, Scavarda D, Giusiano B, Milh M, Bulteau C, Bartolomei F. Lagarde S, et al. Among authors: lepine a. Epilepsia. 2016 Jun;57(6):956-66. doi: 10.1111/epi.13387. Epub 2016 Apr 22. Epilepsia. 2016. PMID: 27106864 Free article.
114 results