Publications detailing patients and mutations

Shoubridge C, et al. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet. 2010; 42(6):486-488. PMID:20473311.

Rauch A, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012; 380(9854):1674-1682. PMID:23020937.

Epi4K Consortium, et al. De novo mutations in epileptic encephalopathies. Nature. 2013; 501(7466):217-221. PMID: 23934111.

Gandomi SK, et al. Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis. J Genet Couns. 2014; 23(3):289-298. PMID:24306141.

Redin C, et al. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. J Med Genet. 2014; 51(11):724-736. PMID:25167861.

Olson HE, et al. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. Am J Med Genet A. 2015; 167A(9):2017-2025. PMID:25914188.

Tzschach A, et al. Next-generation sequencing in X-linked intellectual disability. Eur J Hum Genet. 2015;23(11):1513-8. PMID:25649377.

Kalscheuer VM, et al. Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. Front Mol Neurosci. 2016; 8:85. PMID:26793055.

Helbig KL, et al. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016; 18(9):898-905. PMID:26795593.

Allou L, et al. Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. Clin Genet. 2017; 91(3):431-440. PMID:27062609.

Epi4K Consortium. De Novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am J Hum Genet. 2016; 99(2):287-98. PMID:27476654.

Zerem A, et al. The molecular and phenotypic spectrum of IQSEC2 related epilepsy. Epilepsia. 2016; 57(11):1858-1869. PMID:27665735.

Moey C, et al. Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders. Eur J Hum Genet. 2016; 24(3):373-80. PMID:26059843.

Ewans LJ, et al . Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. Eur J Hum Genet. 2017; 25(6):763-767. PMID:28295038.


Publications detailing functional research on IQSEC2

Murphy JA, et al. BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses. Brain Res. 2006; 1120(1):35-45. PMID:17045249.

Sakagami H, et al. IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses. Neurosci Res. 2008; 60(2):199-212. PMID: 18164504.

Sanda M, et al. The postsynaptic density protein, IQ-ArfGEF/BRAG1, can interact with IRSp53 through its proline-rich sequence. Brain Res. 2009; 1251:7-15. PMID: 19083995.

Brown JC, et al. Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression. Nat Commun. 2016; 7:11080. PMID: 27009485.

Hinze SJ, et al. Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis. Transl Psychiatry. 2017; 7(5):e1110. PMID: 28463240.