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Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.
Pediatr Neurol. 2021 Jan;114:55-59. doi: 10.1016/j.pediatrneurol.2020.09.015. Epub 2020 Oct 2.
Pediatr Neurol. 2021.
PMID: 33221597
Diagnostic Yield of Epilepsy-Genes Sequencing and Chromosomal Microarray in Pediatric Epilepsy.
Burk KC, Kaneko M, Quindipan C, Vu MH, Cepin MF, Santoro JD, Van Hirtum-Das M, Holder D, Raca G.
Burk KC, et al.
Pediatr Neurol. 2024 Jan;150:50-56. doi: 10.1016/j.pediatrneurol.2023.10.014. Epub 2023 Oct 27.
Pediatr Neurol. 2024.
PMID: 37979304
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Case Report of Pediatric Channelopathies With UNC80 and KCNJ11 Mutations Having Abnormal Respiratory Control Treated With Positive Airway Pressure Therapy.
Hong H, Kamerman-Kretzmer R, Kato R, Rosser T, VanHirtum-Das M, Davidson Ward SL.
Hong H, et al. Among authors: vanhirtum das m.
J Clin Sleep Med. 2018 Aug 15;14(8):1419-1425. doi: 10.5664/jcsm.7288.
J Clin Sleep Med. 2018.
PMID: 30092901
Free PMC article.
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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A.
Mattison KA, et al.
Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330.
Brain. 2023.
PMID: 36074901
Free PMC article.
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Subclinical early posttraumatic seizures detected by continuous EEG monitoring in a consecutive pediatric cohort.
Arndt DH, Lerner JT, Matsumoto JH, Madikians A, Yudovin S, Valino H, McArthur DL, Wu JY, Leung M, Buxey F, Szeliga C, Van Hirtum-Das M, Sankar R, Brooks-Kayal A, Giza CC.
Arndt DH, et al.
Epilepsia. 2013 Oct;54(10):1780-8. doi: 10.1111/epi.12369. Epub 2013 Sep 13.
Epilepsia. 2013.
PMID: 24032982
Free PMC article.
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Children with ESES: variability in the syndrome.
Van Hirtum-Das M, Licht EA, Koh S, Wu JY, Shields WD, Sankar R.
Van Hirtum-Das M, et al.
Epilepsy Res. 2006 Aug;70 Suppl 1:S248-58. doi: 10.1016/j.eplepsyres.2006.01.020. Epub 2006 Jun 23.
Epilepsy Res. 2006.
PMID: 16806829
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