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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: addis l. 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.
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. 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.
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, Aubell K, Koillinen H, Curran S, Marshall CR, Scherer SW, Strug LJ, Collier DA, Pal DK. Addis L, et al. Hum Mutat. 2015 Sep;36(9):842-50. doi: 10.1002/humu.22816. Epub 2015 Jun 30. Hum Mutat. 2015. PMID: 26010655
Analysis of rare copy number variation in absence epilepsies.
Addis L, Rosch RE, Valentin A, Makoff A, Robinson R, Everett KV, Nashef L, Pal DK. Addis L, et al. Neurol Genet. 2016 Mar 22;2(2):e56. doi: 10.1212/NXG.0000000000000056. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123475 Free PMC article.
Idiopathic focal epilepsies: the "lost tribe".
Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M. Pal DK, et al. Among authors: addis l. Epileptic Disord. 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. Epileptic Disord. 2016. PMID: 27435520 Review. English.
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: addis l. Nat Genet. 2013 Sep;45(9):1061-6. doi: 10.1038/ng.2726. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933820
45 results