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The landscape of epilepsy-related GATOR1 variants

Baldassari, S; Baulac, S; Picard, F; Verbeek, NE; van Kempen, M; Brilstra, EH; Lesca, G; Conti, V; Guerrini, R; Bisulli, F; Licchetta, L; Pippucci, T; Tinuper, P; Hirsch, E; de Saint Martin, A; Chelly, J; Rudolf, G; Chipaux, M; Ferrand-Sorbets, S; Do

Baulac, S (reprint author), UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, F-75013 Paris, France.; Baulac, S (reprint author), INSERM, U1127, F-75013 Paris, France.; Baulac, S (reprint author), CNRS, UMR 7225, F-75013 Paris, France.; Baulac, S (reprint au

GENETICS IN MEDICINE, 2019; 21 (2): 398

Abstract

Purpose: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negati......

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