Literature DB >> 25754917

CNKSR2 deletions: a novel cause of X-linked intellectual disability and seizures.

Umut Aypar1, Elaine C Wirrell2, Nicole L Hoppman1.   

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Year:  2015        PMID： 25754917     DOI： 10.1002/ajmg.a.36902

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  9 in total

1.  FMRP regulates mRNAs encoding distinct functions in the cell body and dendrites of CA1 pyramidal neurons.

Authors:  Caryn R Hale; Kirsty Sawicka; Kevin Mora; John J Fak; Jin Joo Kang; Paula Cutrim; Katarzyna Cialowicz; Thomas S Carroll; Robert B Darnell
Journal:  Elife       Date:  2021-12-23       Impact factor: 8.140

2.  Cnksr2 Loss in Mice Leads to Increased Neural Activity and Behavioral Phenotypes of Epilepsy-Aphasia Syndrome.

Authors:  Eda Erata; Yudong Gao; Alicia M Purkey; Erik J Soderblom; James O McNamara; Scott H Soderling
Journal:  J Neurosci       Date:  2021-09-27       Impact factor: 6.167

3.  CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature.

Authors:  Ying Sun; Yi-Dan Liu; Zhi-Feng Xu; Qing-Xia Kong; Yan-Ling Wang
Journal:  World J Clin Cases       Date:  2018-10-26       Impact factor: 1.337

4.  Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.

Authors:  Miriam Kessi; Jing Peng; Lifen Yang; Juan Xiong; Haolin Duan; Nan Pang; Fei Yin
Journal:  BMC Genet       Date:  2018-07-06       Impact factor: 2.797

5.  A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.

Authors:  Daniel L Polla; Harriet R Saunders; Bert B A de Vries; Hans van Bokhoven; Arjan P M de Brouwer
Journal:  Mol Genet Genomic Med       Date:  2019-08-15       Impact factor: 2.183

6.  Psychomotor development and attention problems caused by a splicing variant of CNKSR2.

Authors:  Yi Zhang; Tingting Yu; Niu Li; Jiwen Wang; Jian Wang; Yihua Ge; Ruen Yao
Journal:  BMC Med Genomics       Date:  2020-12-09       Impact factor: 3.063

7.  CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.

Authors:  Qingyun Kang; Liming Yang; Hongmei Liao; Liwen Wu; Bo Chen; Sai Yang; Xiaojun Kuang; Haiyang Yang; Caishi Liao
Journal:  Medicine (Baltimore)       Date:  2021-06-11       Impact factor: 1.817

Review 8.  Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders.

Authors:  Hidenori Ito; Koh-Ichi Nagata
Journal:  Cells       Date:  2022-01-17       Impact factor: 6.600

9.  CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants.

Authors:  Leigh Ann Higa; Jennifer Wardley; Christopher Wardley; Susan Singh; Timothy Foster; Joseph J Shen
Journal:  BMC Med Genomics       Date:  2021-07-15       Impact factor: 3.063
  9 in total

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