The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures

Klein, KM; Pendziwiat, M; Eilam, A; Gilad, R; Blatt, I; Rosenow, F; Kanaan, M; Helbig, I; Afawi, Z

Klein, KM (reprint author), Goethe Univ Frankfurt, Univ Hosp, Epilepsy Ctr Frankfurt Rhine Main, Dept Neurol,Ctr Neurol & Neurosurg, Frankfurt, Germany.; Klein, KM (reprint author), Philipps Univ Marburg, Epilepsy Ctr Hessen, Marburg, Germany.

JOURNAL OF NEUROLOGY, 2017; 264 (7): 1421

Abstract

Mutations or structural genomic alterations of the X-chromosomal gene ARHGEF9 have been described in male and female patients with intellectual disabi......

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