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CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S. Leonard H, et al. Among authors: olson h. Lancet Neurol. 2022 Jun;21(6):563-576. doi: 10.1016/S1474-4422(22)00035-7. Epub 2022 Apr 25. Lancet Neurol. 2022. PMID: 35483386 Free PMC article. Review.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium; Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM. Johnstone DL, et al. Among authors: olson h. Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346. Brain. 2019. PMID: 30668673 Free PMC article.
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA; Undiagnosed Diseases Network; Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A. Kelly M, et al. Among authors: olson h. Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25. Epilepsia. 2019. PMID: 30682224 Free PMC article.
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA. Olson HE, et al. Pediatr Neurol. 2019 Aug;97:18-25. doi: 10.1016/j.pediatrneurol.2019.02.015. Epub 2019 Feb 23. Pediatr Neurol. 2019. PMID: 30928302 Free PMC article. Review.
Severity Assessment in CDKL5 Deficiency Disorder.
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Demarest S, et al. Among authors: olson he. Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27. Pediatr Neurol. 2019. PMID: 31147226 Free PMC article. Review.
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium; Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. Burgess R, et al. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. Ann Neurol. 2019. PMID: 31618474 Free PMC article.
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).
Chen PF, Chen T, Forman TE, Swanson AC, O'Kelly B, Dwyer SA, Buttermore ED, Kleiman R, Js Carrington S, Lavery DJ, Swanson LC, Olson HE, Sahin M. Chen PF, et al. Stem Cell Res. 2021 May;53:102276. doi: 10.1016/j.scr.2021.102276. Epub 2021 Mar 5. Stem Cell Res. 2021. PMID: 33714067 Free PMC article.
314 results