Epilepsy and NREM-parasomnia caused by novel hemizygous ARHGEF9 mutation
Author:
Funder
Italian Ministry of Health
Publisher
Elsevier BV
Subject
General Medicine
Reference5 articles.
1. Epilepsy and NREM-parasomnia: a complex and reciprocal relationship;Pincherle;Sleep Med,2012
2. A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability;Bonzanni;Neurobiol Dis,2018
3. The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures;Klein;J Neurol,2017
4. Clinical and molecular characterization of three novel ARHGEF9 mutations in patients with developmental delay and epilepsy;Yao;J Mol Neurosci,2020
5. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.;Alber;Neurol Genet,2017
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration;Molecular Genetics & Genomic Medicine;2022-05-31
2. Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit;Molecular Psychiatry;2022-02-15
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