Kaitlin Angione, MS, CGC

Publications

• Nguyen-Martinez AL, Jolliffe M, Scimeca LM, Park KL, Demarest S, Knupp KG, Angione K, Miele AS. Single-gene childhood developmental epileptic encephalopathies: a primer for pediatric neuropsychologists. Child Neuropsychol. 2025 Nov 26;:1-29. [Epub ahead of print] PubMed PMID: 41299892
• Johannesen KM, Aung KP, Liao VW, Absalom NL, Chua HC, Gan XN, Mao M, McKenzie CE, Lee HM, Ortiz S, Spillmann RC, Shashi V, Radtke RA, Mirzaa GM, Weisner PA, Flores Daboub J, Hagedorn C, Bayrak-Toydemir P, DeMille D, Zhao J, Bajaj N, Capri Y, Keren B, Schmidts M, van de Laar IM, van Slegtenhorst MA, Ploski R, Bogotko M, Bourque DK, Alkhunaizi E, Chad L, Quercia N, Elloumi H, Wentzensen IM, Kruer MC, Bisarad P, Galaz-Montoya CI, Rusu V, Braun D, Angione K, Win JC, Espinosa-Jovel C, Zacher P, Platzer K, Berkovic SF, Scheffer IE, Chebib M, Rubboli G, Møller RS, Reid CA, Ahring PK. Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive. J Clin Invest. 2025 Nov 25. [Epub ahead of print] PubMed PMID: 41289009
• Abbott M, Angione K, Stringfellow M, Malik K, Saenz M, McCourt E, Silveira L, Miele A, Benke TA, Demarest S. Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes. J Child Neurol. 2025 Aug 6;:8830738251361698. [Epub ahead of print] PubMed PMID: 40767165
• Santucci K, Malik KE, Angione K, Bennink D, Gerk A, Mancini D, Stringfellow M, Dinkel T, Demarest S, Miele AS, Saenz M. Chromosome 8p Syndromes Clinical Presentation and Management Guidelines. Clin Genet. 2025 Feb;107(2):169-178. PubMed PMID: 39390634
• Murthy H, Hoang N, Stark JC, Cui S, Pannia E, Tsoi CT, Harris S, Ceolin C, Verhaeghe L, Scholten S, Baribeau D, Summers J, Costain G, Selvanayagam T, Howe JL, Lewis MES, Brunet T, Rieger S, Rosenfeld JA, Craigen WJ, Burrage LC, Christie MR, Baldwin D, Wentzensen IM, Keren B, Cogne B, Isidor B, Afenjar A, Elshafie RM, Bastaki L, Alkanderi S, Myers KA, Demarest S, Angione K, Abbott M, Campeau PM, Dowling JJ, Mendoza-Londono R, Scherer SW, Deshwar AR, Vorstman J. Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia. Brain. 2025 Jul 28. [Epub ahead of print] PubMed PMID: 40717498
• Megan Abbott, Katie Angione, Megan Stringfellow, Kristina Malik, Margarita Saenz, Andrea Miele, Kaiti Syverson, Bina Maniar, Jacob Borello, Lauren Chaby, Scott Demarest, Evaluation of Epilepsy in 8p-Related Disorders, Epilepsy Research, 2025, 107720, ISSN 0920-1211, https://doi.org/10.1016/j.eplepsyres.2025.107720. (https://www.sciencedirect.com/science/article/pii/S0920121125002219)
• Santucci K, Malik KE, Angione K, Bennink D, Gerk A, Mancini D, Stringfellow M, Dinkel T, Demarest S, Miele AS, Saenz M. Chromosome 8p Syndromes Clinical Presentation and Management Guidelines. Clin Genet. 2025 Feb;107(2):169-178. PubMed PMID: 39390634
• Abbott M, Angione K, Forbes E, Stoecker M, Saenz M, Neul JL, Marsh ED, Skinner SA, Percy AK, Benke TA. Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing. Am J Med Genet A. 2024 Oct;194(10):e63725. PubMed PMID: 38775384
• Benke TA, Demarest S, Angione K, Downs J, Leonard H, Saldaris J, Marsh ED, Olson H, Haviland I. CDKL5 Deficiency Disorder. . 1993. PubMed PMID: 38603524
• Brock DC, Abbott M, Reed L, Kammeyer R, Gibbons M, Angione K, Bernard TJ, Gaskell A, Demarest S. Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications. Epilepsy Res. 2023 Jul;193:107167. PubMed PMID: 37230012
• Goodspeed K, Demarest S, Johannesen K, Kang J, Lal D, Angione K. SLC6A1-Related Neurodevelopmental Disorder. . 1993. PubMed PMID: 36780407
• Slatnick LR, Angione K, Hartman L. Precursor B-cell acute lymphoblastic leukemia in a pediatric patient with Bainbridge-Ropers syndrome. Pediatr Blood Cancer. 2023 Jan;70(1):e29873. PubMed PMID: 35733401
• Slatnick LR, Angione K, Hartman L. Precursor B-cell acute lymphoblastic leukemia in a pediatric patient with Bainbridge-Ropers syndrome. Pediatr Blood Cancer. 2023 Jan;70(1):e29873. PubMed PMID: 35733401
• McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S, Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Chernuha V, Meibos B, Wong K, Sweney MT, Espinoza AC, Van Orman CB, Weinstock A, Kumar A, Soler-Alfonso C, Nolan DA, Raza M, Rojas Carrion MD, Chari G, Marsh ED, Shiloh-Malawsky Y, Parikh S, Gonzalez-Giraldo E, Fulton S, Sogawa Y, Burns K, Malets M, Montiel Blanco JD, Habela CW, Wilson CA, Guzmán GG, Pavliuk M. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. PubMed PMID: 36315135
• S Demarest, J Calhoun, K Eschbach, H Yu, D Mirsky, K Angione, T Shaikh, G Carvill, T Benke. Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms. Dev Med & Child Neuro 2021 Nov.
• Demarest ST, Olson HE, Moss A, Pestana-Knight E, Zhang X, Parikh S, Swanson LC, Riley KD, Bazin GA, Angione K, Niestroj LM, Lal D, Juarez-Colunga E, Benke TA. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia. 2019 Aug;60(8):1733-1742. PubMed PMID: 31313283
• Angione K, Eschbach K, Smith G, Joshi C, Demarest S. Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. Epilepsy Res. 2019 Feb;150:70-77. PubMed PMID: 30660939
• Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R. De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. Am J Hum Genet. 2019 Feb 7;104(2):203-212. PubMed PMID: 30612693
• Angione K, Gibbons M, Demarest S. An Objective Method for Evaluating Next-Generation Sequencing Panels. J Child Neurol. 2018 Dec 20;:883073818815036. [Epub ahead of print] PubMed PMID: 30569809
• Eschbach K, Moss A, Joshi C, Angione K, Smith G, Dempsey A, Juarez-Colunga E, Demarest ST. Diagnosis switching and outcomes in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. Epilepsy Res. 2018 Nov;147:95-101. PubMed PMID: 30286391
• Epilepsy Genetics Initiative. De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.Genet Med 2017.

Practice Locations

Children's Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Specialty Information

Specialties

• Clinical Genetics and Genomics (MD), Board Certification