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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: tillema jm. Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. Am J Hum Genet. 2019. PMID: 30849329 Free PMC article. No abstract available.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: tillema jm. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
Predictive models in the diagnosis and treatment of autoimmune epilepsy.
Dubey D, Singh J, Britton JW, Pittock SJ, Flanagan EP, Lennon VA, Tillema JM, Wirrell E, Shin C, So E, Cascino GD, Wingerchuk DM, Hoerth MT, Shih JJ, Nickels KC, McKeon A. Dubey D, et al. Among authors: tillema jm. Epilepsia. 2017 Jul;58(7):1181-1189. doi: 10.1111/epi.13797. Epub 2017 May 26. Epilepsia. 2017. PMID: 28555833
A fatal case of malignant atrophic papulosis in a pediatric patient.
Schaefer LS, Wampler Muskardin T, Tillema JM, Wieland C, Tollefson MM. Schaefer LS, et al. Among authors: tillema jm. Pediatr Dermatol. 2022 Jan;39(1):112-114. doi: 10.1111/pde.14878. Epub 2021 Dec 21. Pediatr Dermatol. 2022. PMID: 34935194
Autoimmune encephalitis epidemiology and a comparison to infectious encephalitis.
Dubey D, Pittock SJ, Kelly CR, McKeon A, Lopez-Chiriboga AS, Lennon VA, Gadoth A, Smith CY, Bryant SC, Klein CJ, Aksamit AJ, Toledano M, Boeve BF, Tillema JM, Flanagan EP. Dubey D, et al. Among authors: tillema jm. Ann Neurol. 2018 Jan;83(1):166-177. doi: 10.1002/ana.25131. Ann Neurol. 2018. PMID: 29293273 Free PMC article.
Aquaporin-4 and Myelin Oligodendrocyte Glycoprotein Autoantibody Status Predict Outcome of Recurrent Optic Neuritis.
Jitprapaikulsan J, Chen JJ, Flanagan EP, Tobin WO, Fryer JP, Weinshenker BG, McKeon A, Lennon VA, Leavitt JA, Tillema JM, Lucchinetti C, Keegan BM, Kantarci O, Khanna C, Jenkins SM, Spears GM, Sagan J, Pittock SJ. Jitprapaikulsan J, et al. Among authors: tillema jm. Ophthalmology. 2018 Oct;125(10):1628-1637. doi: 10.1016/j.ophtha.2018.03.041. Epub 2018 Apr 30. Ophthalmology. 2018. PMID: 29716788
Association of MOG-IgG Serostatus With Relapse After Acute Disseminated Encephalomyelitis and Proposed Diagnostic Criteria for MOG-IgG-Associated Disorders.
López-Chiriboga AS, Majed M, Fryer J, Dubey D, McKeon A, Flanagan EP, Jitprapaikulsan J, Kothapalli N, Tillema JM, Chen J, Weinshenker B, Wingerchuk D, Sagen J, Gadoth A, Lennon VA, Keegan BM, Lucchinetti C, Pittock SJ. López-Chiriboga AS, et al. Among authors: tillema jm. JAMA Neurol. 2018 Nov 1;75(11):1355-1363. doi: 10.1001/jamaneurol.2018.1814. JAMA Neurol. 2018. PMID: 30014148 Free PMC article.
100 results