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Literature DB >> 33220649

Epilepsy and NREM-parasomnia caused by novel hemizygous ARHGEF9 mutation.

Elena Freri¹, Barbara Castellotti², Giuseppe Didato³, Jacopo C DiFrancesco⁴, Tiziana Granata⁵.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2020 PMID： 33220649 DOI： 10.1016/j.sleep.2020.11.003

Source DB: PubMed Journal: Sleep Med ISSN： 1389-9457 Impact factor: 3.492

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2 in total

1. Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA_A receptor α2 subunit.

Authors: Dustin J Hines; April Contreras; Betsua Garcia; Jeffrey S Barker; Austin J Boren; Christelle Moufawad El Achkar; Stephen J Moss; Rochelle M Hines
Journal: Mol Psychiatry Date: 2022-02-15 Impact factor: 13.437

2. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.

Authors: Haiyan Yang; Hongmei Liao; Siyi Gan; Ting Xiao; Liwen Wu
Journal: Mol Genet Genomic Med Date: 2022-05-31 Impact factor: 2.473

2 in total

Epilepsy and NREM-parasomnia caused by novel hemizygous ARHGEF9 mutation.

1. Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit.

2. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.

1. Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA_A receptor α2 subunit.