Results 1 to 10 of about 35,737,382 (164)

No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. [PDF]

PLoS Genetics, 2015
Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes based on findings from homozygosity mapping, molecular cytogenetics, copy number variation analyses,
John D Murdoch, Abha R Gupta, Stephan J Sanders, Michael F Walker, John Keaney, Thomas V Fernandez, Michael T Murtha, Samuel Anyanwu, Gordon T Ober, Melanie J Raubeson, Nicholas M DiLullo, Natalie Villa, Zainabdul Waqar, Catherine Sullivan, Luis Gonzalez, A Jeremy Willsey, So-Yeon Choe, Benjamin M Neale, Mark J Daly, Matthew W State   +19 more
doaj   +16 more sources

The role of contactin-associated protein-like 2 in neurodevelopmental disease and human cerebral cortex evolution [PDF]

Frontiers in Molecular Neuroscience, 2022
The contactin-associated protein-like 2 (CNTNAP2) gene is associated with multiple neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability (ID), and specific language impairment (SLI).
Frances St. George-Hyslop, Frances St. George-Hyslop, Toomas Kivisild, Toomas Kivisild, Frederick J. Livesey   +4 more
doaj   +9 more sources

Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential α-secretase cleavages, leading to autism-like phenotypes [PDF]

Signal Transduction and Targeted Therapy
Mutations in the Contactin-associated protein-like 2 (CNTNAP2) gene are associated with autism spectrum disorder (ASD), and ectodomain shedding of the CNTNAP2 protein plays a role in its function.
Qing Zhang, Mengen Xing, Zhengkai Bao, Lu Xu, Yang Bai, Wanqi Chen, Wenhao Pan, Fang Cai, Qunxian Wang, Shipeng Guo, Jing Zhang, Zhe Wang, Yili Wu, Yun Zhang, Jia-Da Li, Weihong Song   +15 more
doaj   +5 more sources

Anti-contactin-associated protein-like 2 antibody-associated encephalitis in children: A case report and literature review [PDF]

Frontiers in Pediatrics, 2022
BackgroundAnti-Contactin-associated protein-like 2 (CASPR2) antibody-associated encephalitis is a rare group of autoimmune diseases that causes extensive damage to the central and/or peripheral nervous system.Case presentationHere, we reported a case of ...
Qingyang Dou, Qingyang Dou, Renke Li, Xiaomei Shu   +3 more
doaj   +4 more sources

Specific overexpression of contactin-associated protein-like 2 and its effects on pain-related behaviour in mice [PDF]

PAIN Reports
. Introduction:. Hyperexcitability, particularly of DRG neurons, is a key driver of persistent pain states including neuropathic pain. Contactin-associated protein-like 2 (CASPR2) is transmembrane protein known to interact and regulate the function of ...
Mandy Tseng, Steven J. Middleton, Adham Farah, Sarosh R. Irani, John M. Dawes, David L. Bennett   +5 more
doaj   +4 more sources

The Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study. [PDF]

PLoS ONE, 2015
The establishment and maintenance of neuronal circuits depends on tight regulation of synaptic contacts. We hypothesized that CNTNAP2, a protein associated with autism, would play a key role in this process.
Amos Gdalyahu, Maria Lazaro, Olga Penagarikano, Peyman Golshani, Joshua T Trachtenberg, Daniel H Geschwind   +5 more
doaj   +7 more sources

Low Plasma Levels of Contactin-Associated Protein-Like 2 in Children with Autism Spectrum Disorder: Links to Neural Development [PDF]

Neuropsychiatric Disease and Treatment
Laila Yosif Alayadhi,1,2 Dost Muhammad Halepoto,1 Abdulrahman Mohammed Alhowikan,1,2 Nadra Elyass Elamin,1 Aurangzeb Taj Halepota2 1Autism Research and Treatment Center, Al-Amodi Autism Research Chair, Riyadh, Saudi Arabia; 2Department of Physiology ...
Alayadhi LY, Halepoto DM, Alhowikan AM, Elamin NE, Halepota AT   +4 more
doaj   +4 more sources

Contactin-associated protein-like 2 antibody-associated autoimmune encephalitis in children: case reports and systematic review of literature. [PDF]

Acta Neurol Belg, 2023
To ascertain the clinical characteristics of pediatric patients with contactin-associated protein-like 2 (CASPR2) antibody-associated autoimmune encephalitis (AEs).Two cases of CASPR2 antibody-associated AEs have been reported. In addition, a systematic search of literature published between January 2010 and March 2022 through six online databases was ...
Cheng YK, Ling YZ, Yang CF, Li YM.
europepmc   +4 more sources

Contactin-Associated Protein-Like 2-Related Peripheral Nerve Hyperexcitability Associated With Charcot-Marie-Tooth Type 4F. [PDF]

Neurohospitalist, 2023
Contactin-associated protein-like 2 autoimmunity is an uncommon disorder resulting in peripheral nerve hyperexcitability or encephalitis. In a fifth of cases, onset may be provoked by thymoma, but other associations are largely unknown. We report a patient with anti-contactin-associated protein-like 2-related peripheral nerve hyperexcitability arising ...
Ferrara JM, Wiid M, Burke S.
europepmc   +4 more sources

Leucine-Rich Glioma-Inactivated 1 versus Contactin-Associated Protein-like 2 Antibody Neuropathic Pain: Clinical and Biological Comparisons. [PDF]

Ann Neurol, 2021
Pain is a under‐recognized association of leucine‐rich glioma‐inactivated 1 (LGI1) and contactin‐associated protein‐like 2 (CASPR2) antibodies. Of 147 patients with these autoantibodies, pain was experienced by 17 of 33 (52%) with CASPR2‐ versus 20 of 108 (19%) with LGI1 antibodies (p = 0.0005), and identified as neuropathic in 89% versus 58% of these,
Ramanathan S, Tseng M, Davies AJ, Uy CE, Paneva S, Mgbachi VC, Michael S, Varley JA, Binks S, Themistocleous AC, Fehmi J, Anziska Y, Soni A, Hofer M, Waters P, Brilot F, Dale RC, Dawes J, Rinaldi S, Bennett DL, Irani SR.   +20 more
europepmc   +6 more sources