Results 11 to 20 of about 4,840 (178)

Defining the contribution of CNTNAP2 to autism susceptibility. [PDF]

PLoS ONE, 2013
Multiple lines of genetic evidence suggest a role for CNTNAP2 in autism. To assess its population impact we studied 2148 common single nucleotide polymorphisms (SNPs) using transmission disequilibrium test (TDT) across the entire ~3.3 Mb CNTNAP2 locus in
Srirangan Sampath, Shambu Bhat, Simone Gupta, Ashley O'Connor, Andrew B West, Dan E Arking, Aravinda Chakravarti   +6 more
doaj   +5 more sources

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants [PDF]

Italian Journal of Pediatrics, 2021
Background Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language.
Marcello Scala, Midas Anijs, Roberta Battini, Francesca Madia, Valeria Capra, Paolo Scudieri, Alberto Verrotti, Federico Zara, Carlo Minetti, Sonja C. Vernes, Pasquale Striano   +10 more
doaj   +10 more sources

Neuroanatomical Alterations in the CNTNAP2 Mouse Model of Autism Spectrum Disorder

Brain Sciences, 2023
Autism spectrum disorder (ASD) is associated with neurodevelopmental alterations, including atypical forebrain cellular organization. Mutations in several ASD-related genes often result in cerebral cortical anomalies, such as the abnormal developmental ...
Charles C Lee, Philip A Adeniyi, Tanya Gandhi   +2 more
exaly   +5 more sources

Degraded tactile coding in the Cntnap2 mouse model of autism [PDF]

Cell Reports, 2023
Summary: Atypical sensory processing is common in autism, but how neural coding is disrupted in sensory cortex is unclear. We evaluate whisker touch coding in L2/3 of somatosensory cortex (S1) in Cntnap2−/− mice, which have reduced inhibition.
Han Chin Wang, Daniel E. Feldman
doaj   +7 more sources

Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse

Frontiers in Neuroscience, 2023
Over the last decade, a large variety of alterations of the Contactin Associated Protein 2 (CNTNAP2) gene, encoding Caspr2, have been identified in several neuronal disorders, including neurodevelopmental disorders and peripheral neuropathies.
Carmen Cifuentes-Diaz, Carmen Cifuentes-Diaz, Carmen Cifuentes-Diaz, Giorgia Canali, Giorgia Canali, Giorgia Canali, Marta Garcia, Marta Garcia, Marta Garcia, Mélanie Druart, Mélanie Druart, Mélanie Druart, Taylor Manett, Taylor Manett, Taylor Manett, Mythili Savariradjane, Mythili Savariradjane, Mythili Savariradjane, Camille Guillaume, Camille Guillaume, Camille Guillaume, Corentin Le Magueresse, Corentin Le Magueresse, Corentin Le Magueresse, Laurence Goutebroze, Laurence Goutebroze, Laurence Goutebroze   +26 more
doaj   +4 more sources

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

Cerebral Cortex, 2017
Human mutations in CNTNAP2 are associated with an array of neuropsychiatric and neurological syndromes, including speech and language disorders, epilepsy, and autism spectrum disorder (ASD).
Vikaas S Sohal, Paul, A., Daniel Vogt, Z Josh Huang, Rubenstein, J. L. R., Anirban Paul, Sohal, V. S., Samantha M Shelton, Vogt, Daniel, Cho, Kathleen KA, Shelton, Samantha M, Cho, K. K. A., Shelton, S. M., Paul, Anirban, John L R Rubenstein, Sohal, Vikaas S, Huang, Z. J., Kathleen K A Cho, Vogt, D., Huang, Z Josh, Rubenstein, John LR   +20 more
core   +6 more sources

Intragenic CNTNAP2 Deletions: A Bridge Too Far [PDF]

Molecular Syndromology, 2017
Intragenic deletions of the contactin-associated protein-like 2 gene (<i>CNTNAP2</i>) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal ...
Martin Poot
core   +3 more sources

CNTNAP2 stabilizes interneuron dendritic arbors through CASK [PDF]

Molecular Psychiatry, 2018
Contactin associated protein-like 2 (CNTNAP2) has emerged as a prominent susceptibility gene implicated in multiple complex neurodevelopmental disorders, including autism spectrum disorders (ASD), intellectual disability (ID), and schizophrenia (SCZ ...
D. James Surmeier, Piguel, Nicolas H., Surmeier, D. James, John G. Csernansky, Alexandria E. Melendez-Zaidi, Gefei Zhang, Ruoqi Gao, Nicolas H. Piguel, Gao, Ruoqi, Sehyoun Yoon, Melendez-Zaidi, Alexandria E., Penzes, Peter, Russell, Theron A., Maria Dolores Martin-de-Saavedra, Forrest, Marc P., Csernansky, John G., Theron A. Russell, Yoon, Sehyoun, Peter Penzes, Zhang, Gefei, Kristoffer Myczek, Martín De Saavedra Álvarez De Uribarri, María Dolores, Myczek, Kristoffer, Marc P. Forrest   +23 more
core   +3 more sources

Intermittent hypoxia-induced enhancement of sociability and working memory associates with CNTNAP2 upregulation [PDF]

Frontiers in Molecular Neuroscience, 2023
IntroductionHypoxia is an environmental risk factor for many disorders throughout life. Perinatal hypoxia contributes to autism spectrum disorder (ASD), while hypoxic conditions in the elderly facilitate memory deficits.
Qing Zhang, Qing Zhang, Lu Xu, Yang Bai, Peiye Chen, Mengen Xing, Fang Cai, Yili Wu, Weihong Song, Weihong Song   +9 more
doaj   +2 more sources

Somatosensory cortex hyperconnectivity and impaired whisker-dependent responses in Cntnap2−/− mice

Neurobiology of Disease, 2022
Sensory abnormalities are a common feature in autism spectrum disorders (ASDs). Tactile responsiveness is altered in autistic individuals, with hypo-responsiveness being associated with the severity of ASD core symptoms.
Luigi Balasco, Marco Pagani, Luca Pangrazzi, Gabriele Chelini, Francesca Viscido, Alessandra Georgette Ciancone Chama, Alberto Galbusera, Giovanni Provenzano, Alessandro Gozzi, Yuri Bozzi   +9 more
doaj   +2 more sources