Publications

Yang H, Liao H, Gan S, Xiao T, Wu L. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: genotypic phenotype analysis and treatment exploration. Mol Genet Genomic Med. 2022;10(7):e1967. PMID: 35638461.

Hines DJ, Contreras A, Garcia B, Barker JS, Boren AJ, Moufawad El Achkar C, Moss SJ, Hines RM. Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit. Mol Psychiatry. 2022;27(3):1729-1741. PMID: 35169261.

Qiu T, Dai Q, Wang Q. A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report. J Int Med Res. 2021;49(11):3000605211058372. PMID: 34851771.

Ghesh L, Besnard T, Nizon M, Trochu E, Landeau-Trottier G, Breheret F, Thauvin-Robinet C, Bruel AL, Kuentz P, Coubes C, Cuisset L, Mignot C, Keren B, Bézieau S, Cogné B. Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder. Hum Mutat. 2021;42(5):498-505. PMID: 33600053.

Freri E, Castellotti B, Didato G, DiFrancesco JC, Granata T. Epilepsy and NREM-parasomnia caused by novel hemizygous ARHGEF9 mutation. Sleep Med. 2020;76:158-159. PMID: 33220649.

Scala M, Zonneveld-Huijssoon E, Brienza M, Mecarelli O, van der Hout AH, Zambrelli E, Turner K, Zara F, Peron A, Vignoli A, Striano P. De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females. Neurogenetics. 2021;22(1):87-94. PMID: 32939676.

Yao R, Zhang Y, Liu J, Wang J, Xu Y, Li N, Wang J, Yu T. Clinical and molecular characterization of three novel ARHGEF9 mutations in patients with developmental delay and epilepsy. J Mol Neurosci. 2020;70(6):908-915. PMID: 31942680.