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New insights into the genetics of stuttering.
Szepetowski P. Szepetowski P. Brain. 2023 Dec 1;146(12):4788-4790. doi: 10.1093/brain/awad369. Brain. 2023. PMID: 37987612 No abstract available.
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: szepetowski p. Neurology. 2023 Feb 7;100(6):e603-e615. doi: 10.1212/WNL.0000000000201492. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307226 Free PMC article.
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel.
Mao X, Bruneau N, Gao Q, Becq H, Jia Z, Xi H, Shu L, Wang H, Szepetowski P, Aniksztejn L. Mao X, et al. Among authors: szepetowski p. Front Cell Neurosci. 2020 Jan 24;14:1. doi: 10.3389/fncel.2020.00001. eCollection 2020. Front Cell Neurosci. 2020. PMID: 32038177 Free PMC article.
Impaired vocal communication, sleep-related discharges, and transient alteration of slow-wave sleep in developing mice lacking the GluN2A subunit of N-methyl-d-aspartate receptors.
Salmi M, Del Gallo F, Minlebaev M, Zakharov A, Pauly V, Perron P, Pons-Bennaceur A, Corby-Pellegrino S, Aniksztejn L, Lenck-Santini PP, Epsztein J, Khazipov R, Burnashev N, Bertini G, Szepetowski P. Salmi M, et al. Among authors: szepetowski p. Epilepsia. 2019 Jul;60(7):1424-1437. doi: 10.1111/epi.16060. Epub 2019 Jun 3. Epilepsia. 2019. PMID: 31158310
In Utero Administration of Drugs Targeting Microglia Improves the Neurodevelopmental Outcome Following Cytomegalovirus Infection of the Rat Fetal Brain.
Cloarec R, Bauer S, Teissier N, Schaller F, Luche H, Courtens S, Salmi M, Pauly V, Bois E, Pallesi-Pocachard E, Buhler E, Michel FJ, Gressens P, Malissen M, Stamminger T, Streblow DN, Bruneau N, Szepetowski P. Cloarec R, et al. Among authors: szepetowski p. Front Cell Neurosci. 2018 Mar 6;12:55. doi: 10.3389/fncel.2018.00055. eCollection 2018. Front Cell Neurosci. 2018. PMID: 29559892 Free PMC article.
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