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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, Bonneau D. Le Meur N, et al. Among authors: joriot s. J Med Genet. 2010 Jan;47(1):22-9. doi: 10.1136/jmg.2009.069732. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592390 Free PMC article.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. Zufferey F, et al. J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. J Med Genet. 2012. PMID: 23054248 Free PMC article.
[Drug treatment of migraine in children: state of the art].
Cuvellier JC, Joriot S, Auvin S, Vallée L. Cuvellier JC, et al. Among authors: joriot s. Arch Pediatr. 2004 May;11(5):449-55. doi: 10.1016/j.arcped.2004.01.005. Arch Pediatr. 2004. PMID: 15135430 Review. French.
[Medical treatment of migraine attacks in the child].
Cuvellier JC, Joriot S, Auvin S, Vallée L. Cuvellier JC, et al. Among authors: joriot s. Rev Infirm. 2006 Jan;(117):16-24. Rev Infirm. 2006. PMID: 16502820 French. No abstract available.
[Neuropediatric approach to autism].
Cuisset JM, Joriot S, Auvin S, Gozé O, Medjkane F, Salloum A, Delion P, Vallée L. Cuisset JM, et al. Among authors: joriot s. Arch Pediatr. 2005 Dec;12(12):1734-41. doi: 10.1016/j.arcped.2005.09.016. Epub 2005 Oct 10. Arch Pediatr. 2005. PMID: 16219450 Review. French.
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J. Bahi-Buisson N, et al. Among authors: joriot s. J Med Genet. 2008 Oct;45(10):647-53. doi: 10.1136/jmg.2008.058073. Epub 2008 Aug 26. J Med Genet. 2008. PMID: 18728072
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