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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. 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.
Age-related semiology changes over time.
Fine A, Nickels K. Fine A, et al. Epilepsy Behav. 2024 Dec 4;163:110185. doi: 10.1016/j.yebeh.2024.110185. Online ahead of print. Epilepsy Behav. 2024. PMID: 39642673
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.
Ryan CS, Fine AL, Cohen AL, Schiltz BM, Renaud DL, Wirrell EC, Patterson MC, Boczek NJ, Liu R, Babovic-Vuksanovic D, Chan DC, Payne ET. Ryan CS, et al. Among authors: fine al. J Child Neurol. 2018 Sep;33(10):651-658. doi: 10.1177/0883073818778203. Epub 2018 Jun 7. J Child Neurol. 2018. PMID: 29877124 Free PMC article. Review.
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.
34 results