Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology and Child Health
Reference27 articles.
1. Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2/Caspr2 knockout neurons;Varea;Proc Natl Acad Sci USA.,2015
2. Patient-derived hiPSC neurons with heterozygous CNTNAP2 deletions display altered neuronal gene expression and network activity;Flaherty;NPJ Schizophr.,2017
3. Genome-wide analyses of human perisylvian cerebral cortical patterning;Abrahams;Proc Natl Acad Sci USA.,2007
4. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders;Bakkaloglu;Am J Hum Genet.,2008
5. Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits;Penagarikano;Cell.,2011
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1. Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case–control association study reveals potential biomarkers;Molecular Biology Reports;2024-02-05
2. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder;Human Genetics;2023-05-14
3. A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family;Molecular Syndromology;2023
4. CNTNAP2 Associated Neurodevelopmental Disorders: Intellectual Disability and Epilepsy comorbidity in Pakistani population.;2022-09-19
5. CNTNAP2 Associated Neurodevelopmental Disorders: Intellectual Disability and Epilepsy comorbidity in Pakistani population.;2022-09-02
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