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Page 1
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium; Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. Burgess R, et al. Among authors: kurian ma. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. Ann Neurol. 2019. PMID: 31618474 Free PMC article.
Elevated VGKC-complex antibodies in a boy with fever-induced refractory epileptic encephalopathy in school-age children (FIRES).
Illingworth MA, Hanrahan D, Anderson CE, O'Kane K, Anderson J, Casey M, de Sousa C, Cross JH, Wright S, Dale RC, Vincent A, Kurian MA. Illingworth MA, et al. Among authors: kurian ma. Dev Med Child Neurol. 2011 Nov;53(11):1053-7. doi: 10.1111/j.1469-8749.2011.04008.x. Epub 2011 May 18. Dev Med Child Neurol. 2011. PMID: 21592118 Free article.
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. Poduri A, et al. Among authors: kurian ma. Epilepsia. 2012 Aug;53(8):e146-50. doi: 10.1111/j.1528-1167.2012.03538.x. Epub 2012 Jun 12. Epilepsia. 2012. PMID: 22690784 Free PMC article.
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, Lees A, Warner T, Kullmann DM, Wood NW, Hanna M, Houlden H. Gardiner AR, et al. Among authors: kurian ma. Neurology. 2012 Nov 20;79(21):2115-21. doi: 10.1212/WNL.0b013e3182752c5a. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077024 Free PMC article.
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.
McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, Bhate S, Cronin A, Curran A, Desurkar A, Farrell MA, Hughes E, Jefferson R, Lascelles K, Livingston J, Meyer E, McLellan A, Poduri A, Scheffer IE, Spinty S, Kurian MA, Kneen R. McTague A, et al. Among authors: kurian ma. Brain. 2013 May;136(Pt 5):1578-91. doi: 10.1093/brain/awt073. Epub 2013 Apr 18. Brain. 2013. PMID: 23599387 Free PMC article.
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium; Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC. Martin HC, et al. Among authors: kurian ma. Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25. Hum Mol Genet. 2014. PMID: 24463883 Free PMC article.
SLC25A22 is a novel gene for migrating partial seizures in infancy.
Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA. Poduri A, et al. Among authors: kurian ma. Ann Neurol. 2013 Dec;74(6):873-82. doi: 10.1002/ana.23998. Ann Neurol. 2013. PMID: 24596948 Free PMC article.
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA. Ng J, et al. Among authors: kurian ma. Brain. 2014 Apr;137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10. Brain. 2014. PMID: 24613933 Free PMC article.
207 results