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 …

[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 …

[HTML][HTML] 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 …

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 …

Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation

G Falivelli, A De Jaco, FL Favaloro, H Kim… - Human molecular …, 2012 - academic.oup.com
Although genetic variations in several genes encoding for synaptic adhesion proteins have
been found to be associated with autism spectrum disorders, one of the most consistently …

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 …

Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons

G Canali, M Garcia, B Hivert, D Pinatel… - Human molecular …, 2018 - academic.oup.com
The CNTNAP2 gene, coding for the cell adhesion glycoprotein Caspr2, is thought to be one
of the major susceptibility genes for autism spectrum disorder (ASD). A large number of rare …

[HTML][HTML] Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells

IS Lee, C Carvalho, P Douvaras, SM Ho, BJ Hartley… - NPJ …, 2015 - nature.com
Neurodevelopmental disorders, such as autism spectrum disorders and schizophrenia, are
complex disorders with a high degree of heritability. Genetic studies have identified several …

[HTML][HTML] Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis

WE Jang, JH Park, G Park, G Bang, CH Na… - Molecular …, 2023 - nature.com
Autism spectrum disorder (ASD) is a major neurodevelopmental disorder in which patients
present with core symptoms of social communication impairment, restricted interest, and …

CNTNAP2 variants affect early language development in the general population

AJO Whitehouse, DVM Bishop, QW Ang… - Genes, Brain and …, 2011 - Wiley Online Library
Early language development is known to be under genetic influence, but the genes affecting
normal variation in the general population remain largely elusive. Recent studies of disorder …