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Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Santos-Gómez A, Miguez-Cabello F, Juliá-Palacios N, García-Navas D, Soto-Insuga V, García-Peñas JJ, Fuentes P, Ibáñez-Micó S, Cuesta L, Cancho R, Andreo-Lillo P, Gutiérrez-Aguilar G, Alonso-Luengo O, Málaga I, Hedrera-Fernández A, García-Cazorla À, Soto D, Olivella M, Altafaj X. Santos-Gómez A, et al. Among authors: cancho r. Int J Mol Sci. 2021 Nov 23;22(23):12656. doi: 10.3390/ijms222312656. Int J Mol Sci. 2021. PMID: 34884460 Free PMC article.
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium. Panagiotakaki E, et al. Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5. Orphanet J Rare Dis. 2015. PMID: 26410222 Free PMC article.