<scp>IQSEC2</scp> ‐related encephalopathy in males due to missense variants in the pleckstrin homology domain-Reference-Cited by-同舟云学术

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IQSEC2 ‐related encephalopathy in males due to missense variants in the pleckstrin homology domain

Published:2022-04-06 Issue:1 Volume:102 Page:72-77
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Shoubridge Cheryl¹^ORCID,Dudding‐Byth Tracy²,Pasquier Laurent³^ORCID,Goel Himanshu²,Yap Patrick⁴,McConnell Vivienne⁵

Affiliation:

1. Robinson Research Institute, and Adelaide Medical School University of Adelaide Adelaide Australia

2. Hunter Genetics Waratah Australia

3. CHU Rennes, Service de Génétique Clinique Centre de Référence Déficiences Intellectuelles Rennes France

4. Genetic Health Service New Zealand (Northern Hub) Auckland New Zealand

5. Northern Ireland Regional Genetics Service Belfast City Hospital, Belfast Health & Social Care Trust Belfast UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14136

Reference23 articles.

1. BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses

2. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

3. Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

4. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

5. IQSEC2mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

Cited by 4 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. Preliminary Study on Clinical Characteristics and Pathogenesis of IQSEC2 Mutations Patients;Pharmacogenomics and Personalized Medicine;2024-05

2. Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions;Journal of Cell Biology;2023-10-03

3. Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patients;2023-07-10

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

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