Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Juliá-Palacios N, Muñoz-Pujol G, Maroofian R, Bertoli-Avella AM, Gómez-Chiari M, Muchart-López J, Paredes-Fuentes AJ, O'Callaghan M, Machado-Casas IS, Cristian I, Morrison J, Garcia-Cazorla A, Codina A, Miryounesi M, Zonic E, Bauer P, Cheema H, Anjum MN, Al-Sannaa N, Abd Elmaksoud M, Ababneh F, Alijanpour S, Tonekaboni SH, Fayazi A, Urbaniak M, Barba U, Hoenicka J, Palau F, Houlden H, Ortigoza-Escobar JD, Ribes A, Santos-Ocaña C, Tyler M, Gaffney P, Carroll CJ, Tort F, Wierenga KJ, Webb BD, Artuch R, Baide-Mairena H, Urreizti R.
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Brain Commun. 2025 Sep 23;7(5):fcaf348. doi: 10.1093/braincomms/fcaf348. eCollection 2025.
Brain Commun. 2025.
PMID: 41040850
Free PMC article.