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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
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
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