Foletta VC, Brown FD, Young WS 3rd. Cloning of rat ARHGAP4/C1, a RhoGAP family member expressed in the nervous system that colocalizes with the Golgi complex and microtubules. Brain Res Mol Brain Res. 2002;107:65–79.

Article  CAS  PubMed  Google Scholar 

Vadodaria KC, Jessberger S. Maturation and integration of adult born hippocampal neurons: signal convergence onto small Rho GTPases. Front Synaptic Neurosci. 2013;5:4.

Article  PubMed  PubMed Central  Google Scholar 

Liu F, Guo H, Ou M, Hou X, Sun G, Gong W, et al. ARHGAP4 mutated in a Chinese intellectually challenged family. Gene. 2016;578:205–9.

Article  CAS  PubMed  Google Scholar 

Huang L, Poke G, Gecz J, Gibson K. A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability. Am J Med Genet A. 2012;158A:2511–8.

Article  PubMed  Google Scholar 

Demura M, Takeda Y, Yoneda T, Furukawa K, Usukura M, Itoh Y, et al. Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus. Hum Mutat. 2002;19:23–9.

Article  CAS  PubMed  Google Scholar 

Zhang MW, Liang XY, Wang J, Gao LD, Liao HJ, He YH, et al. Epilepsy-associated genes:an update. Seizure. 2024;116:4–13.

Article  PubMed  Google Scholar 

https://cn.string-db.org. Accessed 21 Nov 2023

Takenouchi T, Okamoto N, Ida S, Uehara T, Kosaki K. Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. Am J Med Genet A. 2016;170A:852–5.

Article  PubMed  Google Scholar 

Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, et al. RAC1 missense mutations in developmental disorders with diverse phenotypes. Am J Hum Genet. 2017;101:466–77.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, et al. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nat Genet. 2019;51:1438–41.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, et al. Functional dysregulation of CDC42 causes diverse developmental phenotypes. Am J Hum Genet. 2018;102:309–20.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, et al. The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum Mutat. 2020;41:591–9.

Article  CAS  PubMed  Google Scholar 

Kumar S, Abbas MM, Govindappa ST, Muthane UB, Behari M, Pandey S, et al. Compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene segregating in a family with early onset Parkinson’s disease. Parkinsonism Relat Disord. 2021;84:61–7.

Article  CAS  PubMed  Google Scholar 

Pitkänen A, Sutula TP. Is epilepsy a progressive disorder? prospects for new therapeutic approaches in temporal-lobe epilepsy. Lancet Neurol. 2002;1:173–81.

Article  PubMed  Google Scholar 

Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay EZ, Robert SM, Kiziltug E, et al. Contribution of somatic Ras/Raf/Mitogen-activated protein kinase variants in the Hippocampus in drug-resistant mesial temporal lobe epilepsy. JAMA Neurol. 2023;80:578–87.

Article  PubMed  PubMed Central  Google Scholar 

Gomes-Duarte A, Bauer S, Venø MT, Norwood BA, Henshall DC, Kjems J, et al. Enrichment of circular RNA expression deregulation at the transition to recurrent spontaneous seizures in experimental temporal lobe epilepsy. Front Genet. 2021;12:627907.

Article  CAS  PubMed  PubMed Central  Google Scholar 

He N, Li B, Lin ZJ, Zhou P, Su T, Liao WP. Common genetic epilepsies, pathogenicity of genes/variants, and genetic dependence. Seizure. 2023;109:38–9.

Article  PubMed  Google Scholar 

Zou DF, Li XY, Lu XG, Wang HL, Song W, Zhang MW, et al. Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage. Seizure. 2024;116:37–44.

Article  PubMed  Google Scholar 

Rakhade SN, Jensen FE. Epileptogenesis in the immature brain:emerging mechanisms. Nat Rev Neurol. 2009;5:380–91.

Article  CAS  PubMed  PubMed Central  Google Scholar