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Article

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

Journal of neurology - 1 Jul 2017

Klein Karl Martin, Pendziwiat Manuela, Eilam Anda, Gilad Ronit, Blatt Ilan, Rosenow Felix, Kanaan Moien, Helbig Ingo, Afawi Zaid

Abstract excerpt

Mutations or structural genomic alterations of the X-chromosomal gene ARHGEF9 have been described in male and female patients with intellectual disability. Hyperekplexia and epilepsy were observed to a variable degree, but incompletely described. Here, we expand the phenotypic spectrum of ARHGEF9 by describing a large Ethiopian-Jewish family with epilepsy and intellectual disability. The four affected male...

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Share to Adolescent
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Rho Guanine Nucleotide Exchange Factors

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Source

Identifiers

PMID: 28620718
DOI: 10.1007/s00415-017-8539-3

Genes

ARHGEF9

Variants

Provenance

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