Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation-Reference-Cited by-同舟云学术

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Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation

Published:2017-08-24 Issue:10 Volume:5 Page:1639-1643
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Zipper Rachelle¹,Baine Sherri D.²,Genizi Jacob¹³,Maoz Hen⁴,Levy Nina S.¹,Levy Andrew P.¹^ORCID

Affiliation:

1. Technion Faculty of Medicine; Technion Israel Institute of Technology; Haifa Israel

2. Department of Pediatrics; North York General Hospital; University of Toronto; Toronto Ontario Canada

3. Pediatric Neurology Unit; Bnai Zion Medical Center; Haifa Israel

4. Kiryat Shmona Regional Unit for Child Development; Kiryat Shmona Israel

Publisher

Wiley

Subject

General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1139/fullpdf

Reference11 articles.

1. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability;Shoubridge;Nat. Genet.,2010

2. The molecular and phenotypic spectrum of IQSEC2-related epilepsy;Zerem;Epilepsia,2016

3. Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features;Fieremans;Eur. J. Med. Genet.,2015

4. IQSEC2 and X-linked syndromal intellectual disability;Alexander-Bloch;Psychiatr. Genet.,2016

5. Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis;Gandomi;J. Genet. Couns.,2013

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study;Seizure: European Journal of Epilepsy;2024-07

2. Distinct prelimbic cortex neuronal responses to emotional states of others drive emotion recognition in adult male mice;2024-03-06

3. Impaired emotion recognition inCntnap2-deficient mice is associated with hyper-synchronous prefrontal cortex neuronal activity;2023-10-19

4. Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey;Children;2023-08-24

5. Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy;Gene;2023-08

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