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Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AMR, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HGW, Shain C, Allen AS, Canoll PD, Crino PB, Poduri AH, Heinzen EL. Winawer MR, et al. Among authors: poduri ah. Ann Neurol. 2018 Jun;83(6):1133-1146. doi: 10.1002/ana.25243. Epub 2018 May 16. Ann Neurol. 2018. PMID: 29679388 Free PMC article.
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS. Poduri A, et al. Brain Dev. 2010 Aug;32(7):550-5. doi: 10.1016/j.braindev.2009.08.005. Epub 2009 Sep 13. Brain Dev. 2010. PMID: 19751967 Free PMC article.
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.
Poduri A, Wang Y, Gordon D, Barral-Rodriguez S, Barker-Cummings C, Ulgen A, Chitsazzadeh V, Hill RS, Risch N, Hauser WA, Pedley TA, Walsh CA, Ottman R. Poduri A, et al. Neurology. 2009 Oct 20;73(16):1264-72. doi: 10.1212/WNL.0b013e3181bd10d3. Neurology. 2009. PMID: 19841378 Free PMC article.
Rufinamide for the treatment of epileptic spasms.
Olson HE, Loddenkemper T, Vendrame M, Poduri A, Takeoka M, Bergin AM, Libenson MH, Duffy FH, Rotenberg A, Coulter D, Bourgeois BF, Kothare SV. Olson HE, et al. Epilepsy Behav. 2011 Feb;20(2):344-8. doi: 10.1016/j.yebeh.2010.11.023. Epub 2011 Jan 13. Epilepsy Behav. 2011. PMID: 21233024
Somatic activation of AKT3 causes hemispheric developmental brain malformations.
Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA. Poduri A, et al. Neuron. 2012 Apr 12;74(1):41-8. doi: 10.1016/j.neuron.2012.03.010. Neuron. 2012. PMID: 22500628 Free PMC article.
234 results