[HTML][HTML] Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits

O Peñagarikano, BS Abrahams, EI Herman… - Cell, 2011 - cell.com
Although many genes predisposing to autism spectrum disorders (ASD) have been
identified, the biological mechanism (s) remain unclear. Mouse models based on human …

What does CNTNAP2 reveal about autism spectrum disorder?

O Peñagarikano, DH Geschwind - Trends in molecular medicine, 2012 - cell.com
Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous
condition characterized by the presence of repetitive/restrictive behaviors and variable …

Reduced prefrontal synaptic connectivity and disturbed oscillatory population dynamics in the CNTNAP2 model of autism

MT Lazaro, J Taxidis, T Shuman, I Bachmutsky, T Ikrar… - Cell reports, 2019 - cell.com
Loss-of-function mutations in CNTNAP2 cause a syndromic form of autism spectrum
disorder in humans and produce social deficits, repetitive behaviors, and seizures in mice …

Selective dysregulation of hippocampal inhibition in the mouse lacking autism candidate gene CNTNAP2

S Jurgensen, PE Castillo - Journal of Neuroscience, 2015 - Soc Neuroscience
Mutations in the human gene encoding contactin-associated protein-like 2 (CNTNAP2) have
been strongly associated with autism spectrum disorders (ASDs). Cntnap2−/− mice …

Loss of Cntnap2 in the Rat Causes Autism‐Related Alterations in Social Interactions, Stereotypic Behavior, and Sensory Processing

KE Scott, K Kazazian, RS Mann, D Möhrle… - Autism …, 2020 - Wiley Online Library
Autism spectrum disorder (ASD) is characterized by social interaction and communication
impairments, as well as restrictive/repetitive patterns of behavior, interests or activities, which …

Homozygous Loss of Autism-Risk Gene CNTNAP2 Results in Reduced Local and Long-Range Prefrontal Functional Connectivity

A Liska, A Bertero, R Gomolka, M Sabbioni… - Cerebral …, 2018 - academic.oup.com
Functional connectivity aberrancies, as measured with resting-state functional magnetic
resonance imaging (rsfMRI), have been consistently observed in the brain of autism …

Shining a light on CNTNAP2: complex functions to complex disorders

P Rodenas-Cuadrado, J Ho, SC Vernes - European journal of human …, 2014 - nature.com
The genetic basis of complex neurological disorders involving language are poorly
understood, partly due to the multiple additive genetic risk factors that are thought to be …

Connecting the CNTNAP2 networks with neurodevelopmental disorders

M Poot - Molecular syndromology, 2015 - karger.com
Based on genomic rearrangements and copy number variations, the contactin-associated
protein-like 2 gene (CNTNAP2) has been implicated in neurodevelopmental disorders such …

Estrogens suppress a behavioral phenotype in zebrafish mutants of the autism risk gene, CNTNAP2

EJ Hoffman, KJ Turner, JM Fernandez, D Cifuentes… - Neuron, 2016 - cell.com
Autism spectrum disorders (ASDs) are a group of devastating neurodevelopmental
syndromes that affect up to 1 in 68 children. Despite advances in the identification of ASD …

Mouse Cntnap2 and Human CNTNAP2 ASD Alleles Cell Autonomously Regulate PV+ Cortical Interneurons

D Vogt, KKA Cho, SM Shelton, A Paul, ZJ Huang… - Cerebral …, 2018 - academic.oup.com
Human mutations in CNTNAP2 are associated with an array of neuropsychiatric and
neurological syndromes, including speech and language disorders, epilepsy, and autism …