Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown.
Mutations in the HECT domain of NEDD4L lead to AKT - m Tor pathway deregulation and cause periventricular nodular heterotopia / Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study, Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J.. - In: NATURE GENETICS. - ISSN 1546-1718. - ELETTRONICO. - (2016), pp. 1349-1358. [10.1038/ng.3676]
Mutations in the HECT domain of NEDD4L lead to AKT - m Tor pathway deregulation and cause periventricular nodular heterotopia
Guerrini R;
2016
Abstract
Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown.
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