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Page 1
Cerebral MRI abnormalities associated with vigabatrin therapy.
Pearl PL, Vezina LG, Saneto RP, McCarter R, Molloy-Wells E, Heffron A, Trzcinski S, McClintock WM, Conry JA, Elling NJ, Goodkin HP, de Menezes MS, Ferri R, Gilles E, Kadom N, Gaillard WD. Pearl PL, et al. Epilepsia. 2009 Feb;50(2):184-94. doi: 10.1111/j.1528-1167.2008.01728.x. Epub 2008 Sep 8. Epilepsia. 2009. PMID: 18783433 Free article.
Genetic forms of epilepsies and other paroxysmal disorders.
Olson HE, Poduri A, Pearl PL. Olson HE, et al. Among authors: pearl pl. Semin Neurol. 2014 Jul;34(3):266-79. doi: 10.1055/s-0034-1386765. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192505 Free PMC article. Review.
The genetics of the epilepsies.
El Achkar CM, Olson HE, Poduri A, Pearl PL. El Achkar CM, et al. Among authors: pearl pl. Curr Neurol Neurosci Rep. 2015 Jul;15(7):39. doi: 10.1007/s11910-015-0559-8. Curr Neurol Neurosci Rep. 2015. PMID: 26008807 Review.
Utility of initial EEG in first complex febrile seizure.
Harini C, Nagarajan E, Kimia AA, de Carvalho RM, An S, Bergin AM, Takeoka M, Pearl PL, Loddenkemper T. Harini C, et al. Among authors: pearl pl. Epilepsy Behav. 2015 Nov;52(Pt A):200-4. doi: 10.1016/j.yebeh.2015.09.003. Epub 2015 Oct 6. Epilepsy Behav. 2015. PMID: 26448592
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang YH, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Mulkey SB, et al. Among authors: pearl pl. Epilepsia. 2017 Mar;58(3):436-445. doi: 10.1111/epi.13676. Epub 2017 Jan 31. Epilepsia. 2017. PMID: 28139826 Free PMC article.
Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms.
Harini C, Sharda S, Bergin AM, Poduri A, Yuskaitis CJ, Peters JM, Rakesh K, Kapur K, Pearl PL, Prabhu SP. Harini C, et al. Among authors: pearl pl. J Child Neurol. 2018 May;33(6):405-412. doi: 10.1177/0883073818760424. Epub 2018 Mar 26. J Child Neurol. 2018. PMID: 29575949
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study; Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group; Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. Olson HE, et al. Among authors: pearl pl. Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656858 Free PMC article.
267 results