Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family-Reference-Cited by-同舟云学术

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

Published:2016-01-11 Issue: Volume:8 Page:
ISSN:1662-5099
Container-title:Frontiers in Molecular Neuroscience
language:
Short-container-title:Front. Mol. Neurosci.

Author:

Kalscheuer Vera M.,James Victoria M.,Himelright Miranda L.,Long Philip,Oegema Renske,Jensen Corinna,Bienek Melanie,Hu Hao,Haas Stefan A.,Topf Maya,Hoogeboom A. Jeannette M.,Harvey Kirsten,Walikonis Randall,Harvey Robert J.

Funder

Medical Research Council

Seventh Framework Programme

Whitehall Foundation

Publisher

Frontiers Media SA

Subject

Cellular and Molecular Neuroscience,Molecular Biology

Reference39 articles.

1. De novo mutations in epileptic encephalopathies;Allen;Nature,2013

2. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;N. Engl. J. Med.,2012

3. Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4–p11.23;de Vries;Am. J. Med. Genet.,2002

4. Structural basis and mechanism of autoregulation in 3-phosphoinositide-dependent Grp1 family Arf GTPase exchange factors;DiNitto;Mol. Cell,2007

5. Rotamer libraries in the 21st century;Dunbrack;Curr. Opin. Struct. Biol.,2002

Cited by 25 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. Molecular Insights into IQSEC2 Disease;International Journal of Molecular Sciences;2023-03-05

3. Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy;Seizure;2023-02

4. IQSEC2-related encephalopathy in male children: Novel mutations and phenotypes;Frontiers in Molecular Neuroscience;2022-10-03

5. Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior;Translational Psychiatry;2021-03-22