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A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.
Panjwani N, Wilson MD, Addis L, Crosbie J, Wirrell E, Auvin S, Caraballo RH, Kinali M, McCormick D, Oren C, Taylor J, Trounce J, Clarke T, Akman CI, Kugler SL, Mandelbaum DE, McGoldrick P, Wolf SM, Arnold P, Schachar R, Pal DK, Strug LJ. Panjwani N, et al. Among authors: akman ci. Ann Clin Transl Neurol. 2016 Jun 2;3(7):512-22. doi: 10.1002/acn3.320. eCollection 2016 Jul. Ann Clin Transl Neurol. 2016. PMID: 27386500 Free PMC article.
Risk factors for reading disability in families with rolandic epilepsy.
Vega YH, Smith A, Cockerill H, Tang S, Agirre-Arrizubieta Z, Goyal S, Pina M, Akman CI, Jolleff N, McGinnity C, Gomez K, Gupta R, Hughes E, Jackman J, McCormick D, Oren C, Scott D, Taylor J, Trounce J, Clarke T, Kugler S, Mandelbaum DE, McGoldrick P, Wolf S, Strug LJ, Pal DK. Vega YH, et al. Among authors: akman ci. Epilepsy Behav. 2015 Dec;53:174-9. doi: 10.1016/j.yebeh.2015.10.016. Epub 2015 Nov 12. Epilepsy Behav. 2015. PMID: 26580214 Free PMC article.
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
Addis L, Sproviero W, Thomas SV, Caraballo RH, Newhouse SJ, Gomez K, Hughes E, Kinali M, McCormick D, Hannan S, Cossu S, Taylor J, Akman CI, Wolf SM, Mandelbaum DE, Gupta R, van der Spek RA, Pruna D, Pal DK. Addis L, et al. Among authors: akman ci. J Med Genet. 2018 Sep;55(9):607-616. doi: 10.1136/jmedgenet-2018-105319. Epub 2018 May 22. J Med Genet. 2018. PMID: 29789371 Free PMC article.
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: akman ci. 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.
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, De Giorgis V, Della Marina A, Engelstad K, Heussinger N, Kossoff EH, Leen WG, Leiendecker B, Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC. Klepper J, et al. Epilepsia Open. 2020 Aug 13;5(3):354-365. doi: 10.1002/epi4.12414. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913944 Free PMC article.
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