Maulik PK, Mascarenhas MN, Mathers CD, Dua T, Saxena S. Prevalence of intellectual disability: a meta-analysis of population-based studies. Res Dev Disabil. 2011;32:419–36.
Tunnicliffe P, Oliver C. Interplay of phenotype and environment in genetic syndromes associated with severe or profound intellectual disability. Res Dev Disabil. 2011;32:404–18.
Ellison JW, Rosenfeld JA, Schaefer LG. The genetic basis of intellectual disability. Annu Rev Med. 2013;64:441–50.
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, et al. Genetic and phenotypic analysis of 1q43q44 microdeletion syndromes and neurodevelopmental phenotypes associated with ZBTB18 and HNRNPU mutations. Ham June. 2017; 136:463–79.
Tung Y, Lu H, Lin W, Huang T, Kim S, Hu G et al. Case report: Identification of a de novo microdeletion 1q44 in a patient with seizures and developmental delay. front gene. 2021; 12:1–7.
Selmer KK, Bryne E, Rødningen OK, Fannemel M. A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures. Eur J Med Genet. 2012;55:715–8.
High-resolution array CGH, including Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, reveals key regions of seizure phenotype in patients with microcephaly, corpus callosum abnormalities, and 1q43q44 microdeletion and define candidate genes. Ham June. 2012; 131:145–56.
McRae JF, Clayton S, Fitzgerald TW, Kapranis J, Prigmore E, Rajan D, et al. Prevalence and structure of de novo mutations in developmental disorders. Nature. 2017;542:433–8.
Koichi Aoki, G Meng, Koji Suzuki, Takashi Kishi, Y Kameoka, Hajime Nakahara, and others. RP58 binds to condensed chromatin and mediates sequence-specific transcriptional repression. J Biol Chem. 1998;273:26698–704.
Okado H. Regulation of brain development and brain function by the transcriptional repressor RP58. brain resolution. 2019; 1705:15–23.
Okado H. POZ domain Krüppel-like zinc finger (POK) family transcriptional repressor RP58 in the nervous system. Br J Pharm. 2021;178:813–26.
Ohtaka-Maruyama C, Miwa A, Kawano H, Kasai M, Okado H. Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor in mouse brain. J Comp Neurol. 2007;502:1098–108.
Hiroshi Okato, Maruyama Otaka, Masaru Sugitani, Masaru Fukuda, Ryo Ishida, Susumu Hirai, et al. The transcriptional repressor RP58 is critical for cell division patterning and neuronal survival in the developing cortex. Dev Biol. 2009;331:140–51.
Ohtaka-Maruyama C, Hirai S, Miwa A, Heng JIT, Shitara H, Ishii R, et al. RP58 regulates multipolar-bipolar transitions of newborn neurons in the developing cortex. Cell Rep. 2013;3:458–71.
Makoto Hirai, A. Miwa, A. Otaka and A. Maruyama, M. Kasai, M. Okabe, Y. Hata, et al. Control differentiation. EMBO J. 2012;31:1190–202.
Koichi Fujiwara, Hiroshi Miwa, Takashi Kakizaki, Ryo Kaneko, Nari Mikuni, Tanahira C, et al. Glutamate decarboxylase 67 deficiency in a subset of GABAergic neurons induces a schizophrenia-associated phenotype. Neuropsychopharmacology 2015;40:2475–86.
Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, et al. Further evidence that de novo missense and truncating variants of ZBTB18 cause intellectual disability with mixed characteristics. Clin June. 2017; 91:697–707.
Kernin F, Kwon JS, Katzman S, Chen B, Lee JW, Lee SK. FOXG1 coordinates neocortical organization and cortico-cortical connectivity. neuron. 2018;100:1083–96.e5.
Hering H, Sheng M. Dendritic spines: structure, function and regulation. Nat Rev Neurosai. 2001; 2:880–8.
Pchitskaya E, Bezprozvanny I. Dendritic spine shape analysis – classification or clustering? Perspectives. Anterior synaptic neuroscience. 2020; 12:31.
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, et al. Range of genetic mutations associated with severe nonsyndromic sporadic intellectual disability: an exome sequencing study. lancet. 2012;380:1674–82.
De Munnik SA, García-Miñaúr S, Hoischen A, Van Bon BW, Boycott KM, Schoots J and others. Her de novo nonsense mutation of ZBTB18 in a patient with features of 1q43q44 microdeletion syndrome. Eur J Hum Genet. 2014;22:844–6.
Udin LQ. Cognitive and behavioral flexibility: neural mechanisms and clinical considerations. Nat Rev Neurosai. 2021; 22:167–79.
Balschun D, Moechars D, Callaerts-Vegh Z, Vermaercke B, Van Acker N, Andries L, et al. The vesicular glutamate transporter VGLUT1 plays a role in hippocampal long-term potentiation and spatial reversal learning. cerebral cortex. 2010;20:684–93.
Choi DW. Calcium-mediated neurotoxicity: relationship with specific channel types and role in ischemic injury. trend neuroscience. 1988; 11:465–9.
McDonald JW, Johnston MV. Physiological and pathophysiological roles of excitatory amino acids in central nervous system development. Brain Res Rev. 1990;15:41–70.
Collingridge GL, Bliss TV. NMDA receptors and LTP memory. trend neuroscience. 1995; 18:54–56.
O’Donnell C, Nolan MF, Van Rossum MCW. Dendritic spine dynamics regulate the long-term stability of synaptic plasticity. J Neuroscience. 2011;31:16142–56.
van der Schoot V, de Munnik S, Venselaar H, Elting M, Mancini GMS, Ravenswaaij-Arts CMA, et al. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. Mol Genet Genom Med. 2018;6:393–400.
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, et al. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commu. 2020; 11:1–13.
Google Scholar