Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review

Mutations in the elongation factor 1 alpha 2 (EEF1A2) gene have been recently shown to cause epileptic encephalopathy (MIM # 616409 EIEE33) associated with neurodevelopmental disorders such as intellectual disability, autistic spectrum disorder, hypotonia and dysmorphic facial features. EEF1A2 protein is involved in protein synthesis, suppression of apoptosis, regulation of actin function and cytoskeletal structure. To date, only sixteen patients with EEF1A2 mutations have been reported.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research

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Contributor : Lisa StubbsSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusAUTS2 was originally discovered as the gene disrupted by a translocation in human twins with Autism spectrum disorder (ASD), intellectual disability, and epilepsy. Since that initial finding, AUTS2-linked mutations and variants have been associated with a very broad array of neuropsychiatric disorders, suggesting that AUTS2 is required for fundamental steps of neurodevelopment. However, genotype-phenotype correlations in this region are complicated, because most mutations could also involve neighboring genes. Of ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
CONCLUSIONS: The results of our study provide empirical insight into the first-time prevalence of victimization among children with disability, and into the predicative association between family disadvantages and victimization. PMID: 31561190 [PubMed - as supplied by publisher]
Source: Child Abuse and Neglect - Category: Child Development Authors: Tags: Child Abuse Negl Source Type: research
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
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Source: Epilepsy Currents - Category: Neurology Tags: Epilepsy Curr Source Type: research
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Source: Orvosi Hetilap - Category: General Medicine Authors: Tags: Orv Hetil Source Type: research
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Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
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Source: Journal of Health Care for the Poor and Underserved - Category: International Medicine & Public Health Authors: Tags: J Health Care Poor Underserved Source Type: research
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Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
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Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31392718 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
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