| For: | Sun Y, Liu YD, Xu ZF, Kong QX, Wang YL. CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature. World J Clin Cases 2018; 6(12): 570-576 [PMID: 30397616 DOI: 10.12998/wjcc.v6.i12.570] |
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| URL: | https://www.wjgnet.com/2307-8960/full/v6/i12/570.htm |
| Number | Citing Articles |
| 1 |
Leigh Ann Higa, Jennifer Wardley, Christopher Wardley, Susan Singh, Timothy Foster, Joseph J. Shen. CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants. BMC Medical Genomics 2021; 14(1) doi: 10.1186/s12920-021-01033-7
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| 2 |
Hidenori Ito, Koh-ichi Nagata. Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders. Cells 2022; 11(2) doi: 10.3390/cells11020303
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| 3 |
Anil Kumar, Ajay Kumar, Chandraniv Dey, Arvinder Wander, Sudip Chakraborty, Anjana Munshi. Identification and structural characterisation of a novel mutation in the CNKSR2 gene associated with Houge-Type X-Linked Intellectual Developmental Disorder. Journal of Human Genetics 2026; doi: 10.1038/s10038-026-01475-w
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| 4 |
Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili, Mei Shiyue. Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability. BMC Medical Genetics 2020; 21(1) doi: 10.1186/s12881-020-01004-2
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| 5 |
Robyn Whitney, Cristina Go, Ahmed Abushama, Puneet Jain. CNKSR2-Related Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep: A Report of Two Additional Cases and Review of the Literature. Neurology India 2024; 72(1) doi: 10.4103/ni.ni_1191_21
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| 6 |
Lin Yin, Yalan Xu, Jie Mu, Yu Leng, Lei Ma, Yu Zheng, Ruizhi Li, Yin Wang, Peifeng Li, Hai Zhu, Dong Wang, Jing Li. CNKSR2 interactome analysis indicates its association with the centrosome/microtubule system. Neural Regeneration Research 2025; 20(8) doi: 10.4103/NRR.NRR-D-23-01725
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| 7 |
Claudia M. Bonardi, Cyril Mignot, Jose M. Serratosa, Beatriz G. Giraldez, Raffaella Moretti, Gabrielle Rudolf, Chiara Reale, Pia M. Gellert, Katrine M. Johannesen, Gaetan Lesca, Carlo A. Tassinari, Elena Gardella, Rikke S. Møller, Guido Rubboli. Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES). Clinical Neurophysiology 2020; 131(5) doi: 10.1016/j.clinph.2020.01.020
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| 8 |
Bayram Toraman, Samiye Çilem Bilginer, Selma Tural Hesapçıoğlu, Zeynep Göker, Hüseyin Okan Soykam, Bekir Ergüner, Tuba Dinçer, Gökhan Yıldız, Serbülent Ünsal, Burak Kaan Kasap, Sema Kandil, Ersan Kalay. Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations. The Journal of Gene Medicine 2021; 23(4) doi: 10.1002/jgm.3322
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| 9 |
Eda Erata, Yudong Gao, Alicia M. Purkey, Erik J. Soderblom, James O. McNamara, Scott H. Soderling. Cnksr2 Loss in Mice Leads to Increased Neural Activity and Behavioral Phenotypes of Epilepsy-Aphasia Syndrome. The Journal of Neuroscience 2021; 41(46) doi: 10.1523/JNEUROSCI.0650-21.2021
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| 10 |
Adnan Deniz, Eyyüp Üçtepe, Fatma Müjgan Sönmez. Novel splice-site and recurrent p.Arg729* CNKSR2 variants in ESES/CSWS: insights into sex-dependent expression. Seizure: European Journal of Epilepsy 2026; doi: 10.1016/j.seizure.2026.07.013
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| 11 |
Hidenori Ito, Rika Morishita, Mariko Noda, Tomoki Ishiguro, Masashi Nishikawa, Koh-ichi Nagata. The synaptic scaffolding protein CNKSR2 interacts with CYTH2 to mediate hippocampal granule cell development. Journal of Biological Chemistry 2021; 297(6) doi: 10.1016/j.jbc.2021.101427
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| 12 |
Nils Rademacher, Poornima Anantha Subramanian, Sarah A. Shoichet. CNKSR2 scaffold function in the mammalian nervous system. Biological Chemistry 2026; doi: 10.1515/hsz-2025-0241
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| 13 |
Niveda Udaykumar, Mohd Ali Abbas Zaidi, Aishwarya Rai, Jonaki Sen.
CNKSR2, a downstream mediator of retinoic acid signaling, modulates the Ras/Raf/MEK pathway to regulate patterning and invagination of the chick forebrain roof plate. Development 2023; 150(3) doi: 10.1242/dev.200857
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| 14 |
Michael Drees, Neil Kulkarni, Jorge Vidaurre. Electrical Status Epilepticus during Sleep and Evaluating the Electroencephalogram. Journal of Pediatric Epilepsy 2021; 10(04) doi: 10.1055/s-0041-1731412
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| 15 |
Daniel L. Polla, Harriet R. Saunders, Bert B. A. de Vries, Hans van Bokhoven, Arjan P. M. de Brouwer. A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient. Molecular Genetics & Genomic Medicine 2019; 7(10) doi: 10.1002/mgg3.861
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| 16 |
Brent Wilkinson, Marcelo P. Coba. Molecular architecture of postsynaptic Interactomes. Cellular Signalling 2020; 76 doi: 10.1016/j.cellsig.2020.109782
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| 17 |
Yi Zhang, Tingting Yu, Niu Li, Jiwen Wang, Jian Wang, Yihua Ge, Ruen Yao. Psychomotor development and attention problems caused by a splicing variant of CNKSR2. BMC Medical Genomics 2020; 13(1) doi: 10.1186/s12920-020-00844-4
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| 18 |
Qingyun Kang, Liming Yang, Hongmei Liao, Liwen Wu, Bo Chen, Sai Yang, Xiaojun Kuang, Haiyang Yang, Caishi Liao. CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation. Medicine 2021; 100(23) doi: 10.1097/MD.0000000000026093
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| 19 |
Hanna L. Zieger, Stella-Amrei Kunde, Nils Rademacher, Bettina Schmerl, Sarah A. Shoichet. Disease-associated synaptic scaffold protein CNK2 modulates PSD size and influences localisation of the regulatory kinase TNIK. Scientific Reports 2020; 10(1) doi: 10.1038/s41598-020-62207-4
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