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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedláčková L, Štěrbová K, Vlčková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL. Happ HC, et al. Among authors: klint nielsen je. Neurology. 2023 Feb 7;100(6):e603-e615. doi: 10.1212/WNL.0000000000201492. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307226 Free PMC article.
Epilepsy features in ARID1B-related Coffin-Siris syndrome.
Proietti J, Amadori E, Striano P, Ricci E, Cordelli DM, Bana C, Dilena R, Gardella E, Klint Nielsen JE, Pisani F, Lo Barco T, Fiorini E, Fontana E, Darra F, Dalla Bernardina B, Cantalupo G. Proietti J, et al. Among authors: klint nielsen je. Epileptic Disord. 2021 Dec 1;23(6):865-874. doi: 10.1684/epd.2021.1356. Epileptic Disord. 2021. PMID: 34730517