Recent reports have described single individuals with neurodevelopmental disability (NDD) harboring heterozygous KCNQ3 de novo variants (DNVs). We sought to assess whether pathogenic variants in KCNQ3 cause NDD and to elucidate the associated phenotype and molecular mechanisms.
Autism and developmental disability caused by KCNQ3 gain-of-function variants / Sands, T. T.; Miceli, F.; Lesca, G.; Beck, A. E.; Sadleir, L. G.; Arrington, D. K.; Schonewolf-Greulich, B.; Moutton, S.; Lauritano, A.; Nappi, P.; Soldovieri, M. V.; Scheffer, I. E.; Mefford, H. C.; Stong, N.; Heinzen, E. L.; Goldstein, D. B.; Perez, A. G.; Kossoff, E. H.; Stocco, A.; Sullivan, J. A.; Shashi, V.; Gerard, B.; Francannet, C.; Bisgaard, A. -M.; Tumer, Z.; Willems, M.; Rivier, F.; Vitobello, A.; Thakkar, K.; Rajan, D. S.; Barkovich, A. J.; Weckhuysen, S.; Cooper, E. C.; Taglialatela, M.; Cilio, M. R.. - In: ANNALS OF NEUROLOGY. - ISSN 0364-5134. - 86:2(2019), pp. 181-192. [10.1002/ana.25522]
Autism and developmental disability caused by KCNQ3 gain-of-function variants
Miceli F.;Lauritano A.;Taglialatela M.;
2019
Abstract
Recent reports have described single individuals with neurodevelopmental disability (NDD) harboring heterozygous KCNQ3 de novo variants (DNVs). We sought to assess whether pathogenic variants in KCNQ3 cause NDD and to elucidate the associated phenotype and molecular mechanisms.File | Dimensione | Formato | |
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