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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330.
Brain. 2023.
PMID: 36074901
Free PMC article.
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. Among authors: van hirtum das m.
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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Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.
Quindipan C, Cotter JA, Ji J, Mitchell WG, Moke DJ, Navid F, Thomas SM, VanHirtum-Das M, Wang L, Saitta SC, Biegel JA, Hiemenz MC.
Quindipan C, et al.
Pediatr Neurol. 2021 Jan;114:55-59. doi: 10.1016/j.pediatrneurol.2020.09.015. Epub 2020 Oct 2.
Pediatr Neurol. 2021.
PMID: 33221597
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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.
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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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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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. Among authors: van hirtum das m.
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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