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2018 1
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Page 1
CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
Daniels C, Greene C, Smith L, Pestana-Knight E, Demarest S, Zhang B, Benke TA, Poduri A, Olson HE; CDKL5 Study Group. Daniels C, et al. Dev Med Child Neurol. 2024 Apr;66(4):456-468. doi: 10.1111/dmcn.15747. Epub 2023 Sep 28. Dev Med Child Neurol. 2024. PMID: 37771170
The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.
Ziniel SI, Mackie A, Saldaris J, Leonard H, Jacoby P, Marsh ED, Suter B, Pestana-Knight E, Olson HE, Price D, Weisenberg J, Rajaraman R, VanderVeen G, Benke TA, Downs J, Demarest S. Ziniel SI, et al. Epilepsy Res. 2023 Nov;197:107231. doi: 10.1016/j.eplepsyres.2023.107231. Epub 2023 Sep 20. Epilepsy Res. 2023. PMID: 37751639 Free PMC article.
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies.
Olson HE, Demarest S, Pestana-Knight E, Moosa AN, Zhang X, Pérez-Pérez JR, Weisenberg J, O'Connor Prange E, Marsh ED, Rajaraman RR, Suter B, Katyayan A, Haviland I, Daniels C, Zhang B, Greene C, DeLeo M, Swanson L, Love-Nichols J, Benke T, Harini C, Poduri A. Olson HE, et al. Epilepsia. 2023 Jul;64(7):1821-1832. doi: 10.1111/epi.17630. Epub 2023 May 15. Epilepsia. 2023. PMID: 37114835
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.
Haviland I, Daniels CI, Greene CA, Drew J, Love-Nichols JA, Swanson LC, Smith L, Nie DA, Benke T, Sheidley BR, Zhang B, Poduri A, Olson HE. Haviland I, et al. Pediatr Neurol. 2023 Jan;138:71-80. doi: 10.1016/j.pediatrneurol.2022.10.006. Epub 2022 Oct 26. Pediatr Neurol. 2023. PMID: 36403551 Free PMC article.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, Samaco RC, Elsea S, Thorpe E, Kesari A, Perry D, Lee B, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC; Undiagnosed Diseases Network. Keehan L, et al. Am J Med Genet A. 2022 Dec;188(12):3516-3524. doi: 10.1002/ajmg.a.62940. Epub 2022 Aug 7. Am J Med Genet A. 2022. PMID: 35934918 Free PMC article.
27 results