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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: de saint martin a, 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.
Antiglial cell autoantibodies and childhood epilepsy: a case report.
Roubertie A, Boukhaddaoui H, Sieso V, de Saint-Martin A, Lellouch-Tubiana A, Hirsch E, Echenne B, Valmier J. Roubertie A, et al. Among authors: de saint martin a. Epilepsia. 2005 Aug;46(8):1308-12. doi: 10.1111/j.1528-1167.2005.53004.x. Epilepsia. 2005. PMID: 16060945 Free article.
[Movement disorders in children].
Roubertie A, Thobois S, de Saint Martin A, Billette de Villemeur T, Doummar D. Roubertie A, et al. Among authors: de saint martin a. Arch Pediatr. 2006 Jun;13(6):798-800. doi: 10.1016/j.arcped.2006.03.074. Epub 2006 May 11. Arch Pediatr. 2006. PMID: 16690306 French. No abstract available.
A pediatric case of Fisher-Bickerstaff spectrum.
Tsapis M, Laugel V, Koob M, de Saint Martin A, Fischbach M. Tsapis M, et al. Among authors: de saint martin a. Pediatr Neurol. 2010 Feb;42(2):147-50. doi: 10.1016/j.pediatrneurol.2009.09.009. Pediatr Neurol. 2010. PMID: 20117755
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
Lesca G, Rudolf G, Labalme A, Hirsch E, Arzimanoglou A, Genton P, Motte J, de Saint Martin A, Valenti MP, Boulay C, De Bellescize J, Kéo-Kosal P, Boutry-Kryza N, Edery P, Sanlaville D, Szepetowski P. Lesca G, et al. Among authors: de saint martin a, de bellescize j. Epilepsia. 2012 Sep;53(9):1526-38. doi: 10.1111/j.1528-1167.2012.03559.x. Epub 2012 Jun 27. Epilepsia. 2012. PMID: 22738016 Free article.
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P. Lesca G, et al. Among authors: de saint martin a, de bellescize j. Nat Genet. 2013 Sep;45(9):1061-6. doi: 10.1038/ng.2726. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933820
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.
Dimassi S, Labalme A, Lesca G, Rudolf G, Bruneau N, Hirsch E, Arzimanoglou A, Motte J, de Saint Martin A, Boutry-Kryza N, Cloarec R, Benitto A, Ameil A, Edery P, Ryvlin P, De Bellescize J, Szepetowski P, Sanlaville D. Dimassi S, et al. Among authors: de saint martin a, de bellescize j. Epilepsia. 2014 Feb;55(2):370-8. doi: 10.1111/epi.12502. Epub 2013 Dec 24. Epilepsia. 2014. PMID: 24372385 Free article.
114 results