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Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Among authors: fine a. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
CHD2-related epilepsy with eyelid myoclonia: Report of three cases.
Padilla H, Pinto E Vairo F, Wirrell EC, Wong-Kisiel LC, Fine AL, Lanpher BC, Smith KM. Padilla H, et al. Among authors: fine al. Epileptic Disord. 2024 Nov 6. doi: 10.1002/epd2.20305. Online ahead of print. Epileptic Disord. 2024. PMID: 39503459
Through the Lens: Insights Into Sudden Death.
Fine AL. Fine AL. Epilepsy Curr. 2024 May 13;24(4):268-270. doi: 10.1177/15357597241253429. eCollection 2024 Jul-Aug. Epilepsy Curr. 2024. PMID: 39309062 Free PMC article. No abstract available.
Seizures in Children.
Fine A, Wirrell EC. Fine A, et al. Pediatr Rev. 2020 Jul;41(7):321-347. doi: 10.1542/pir.2019-0134. Pediatr Rev. 2020. PMID: 32611798 Review.
751 results