Novel DOCK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference5 articles.
1. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness;Perrault;Am J Hum Genet,2014
2. A framework for variation discovery and genotyping using next-generation DNA sequencing data;DePristo;Nat Genet,2011
3. DOCK7 interacts with TACC3 to regulate interkinetic nuclear migration and cortical neurogenesis;Yang;Nat Neurosci,2012
4. The Rac activator DOCK7 regulates neuronal polarity through local phosphorylation of stathmin/Op18;Watabe-Uchida;Neuron,2006
5. ErbB2 directly activates the exchange factor Dock7 to promote Schwann cell migration;Yamauchi;J Cell Biol,2008
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1. A novel DOCK7 variant as a rare reason for epileptic encephalopathy, cortical blindness, dysmorphic features: A case report and brief review of the literature;Neurology Asia;2023-06
2. Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment;International Journal of Molecular Sciences;2022-07-02
3. A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness;Clinical Dysmorphology;2021-09-02
4. Characteristic facial features and cortical blindness distinguish the DOCK7 ‐related epileptic encephalopathy;Molecular Genetics & Genomic Medicine;2021-01-20
5. RHO to the DOCK for GDP disembarking: Structural insights into the DOCK GTPase nucleotide exchange factors;Journal of Biological Chemistry;2021-01
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