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De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.
Salpietro V, Galassi Deforie V, Efthymiou S, O'Connor E, Marcé-Grau A, Maroofian R, Striano P, Zara F, Morrow MM; SYNAPS Study Group; Reich A, Blevins A, Sala-Coromina J, Accogli A, Fortuna S, Alesandrini M, Au PYB, Singhal NS, Cogne B, Isidor B, Hanna MG, Macaya A, Kullmann DM, Houlden H, Männikkö R. Salpietro V, et al. Among authors: marce grau a. Epilepsia. 2023 Feb;64(2):443-455. doi: 10.1111/epi.17455. Epub 2022 Dec 5. Epilepsia. 2023. PMID: 36318112 Free PMC article.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
Galloping tongue syndrome in a PRRT2 mutation carrier.
Vilas D, Marcé-Grau A, Macaya A, Valls-Solé J, Tolosa E. Vilas D, et al. Neurol Genet. 2019 Nov 11;5(6):e377. doi: 10.1212/NXG.0000000000000377. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872056 Free PMC article. No abstract available.
ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.
Cazurro-Gutiérrez A, Marcé-Grau A, Correa-Vela M, Salazar A, Vanegas MI, Macaya A, Bayés À, Pérez-Dueñas B. Cazurro-Gutiérrez A, et al. Mol Neurobiol. 2021 Aug;58(8):3938-3952. doi: 10.1007/s12035-021-02391-0. Epub 2021 Apr 22. Mol Neurobiol. 2021. PMID: 33886091 Review.
36 results