Results 21 to 30 of about 4,840 (178)

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. [PDF]

Molecular Psychiatry, 2008
A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other neuropsychiatric problems in children of the Old Order Amish community.
Veltman, J. A., Knoers, N. V., Vrijenhoek, T., Van Kessel, A. Geurts, Vliet, W.A. van der, Geurts van Kessel, A.H.M., Janssen, I. M., Knoers, N.V.A.M., Brunner, H. G., Janssen, I.M., Edelmann, L., Faas, B.H.W., Wijmenga, C., Davis, K.L., Kahn, R.S., Brunner, H.G., Davis, K. L., Kahn, R. S., Markx, S., Van der Vliet, W. A., Faas, B. H. W., Cahn, W., Silverman, J. M., Veltman, J.A., Silverman, J.M., Ophoff, R.A., Wijmenga, C.; id_orcid, Friedman, J., Friedman, J. I., Ophoff, R. A.   +29 more
core   +6 more sources

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 [PDF]

BMC Medical Genetics, 2011
Background Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and schizophrenia ...
Ullmann Reinhard, Tinschert Sigrid, Prott Eva, Nagl Sandra, Maystadt Isabelle, Kohlhase Jürgen, Klapecki Jakub, Hoyer Juliane, Horn Denise, Hackmann Karl, Engels Hartmut, Ekici Arif B, Bijlsma Emilia K, Bader Ingrid, Albrecht Beate, Gregor Anne, Wohlleber Eva, Woods Geoffrey, Reis André, Rauch Anita, Zweier Christiane   +20 more
doaj   +12 more sources

PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas

Scientific Reports, 2022
Oligodendrogliomas are typically associated with the most favorable prognosis among diffuse gliomas. However, many of the tumors progress, eventually leading to patient death.
Kirsi J. Rautajoki, Serafiina Jaatinen, Aliisa M. Tiihonen, Matti Annala, Elisa M. Vuorinen, Anni Kivinen, Minna J. Rauhala, Kendra K. Maass, Kristian W. Pajtler, Olli Yli-Harja, Pauli Helén, Joonas Haapasalo, Hannu Haapasalo, Wei Zhang, Matti Nykter   +14 more
doaj   +5 more sources

Postnatal environment affects auditory development and sensorimotor gating in a rat model for autism spectrum disorder [PDF]

Frontiers in Neuroscience
The homozygous Cntnap2 knockout (KO) rat is a well-established genetic model for neurodevelopmental disorders, exhibiting core features of autism spectrum disorder (ASD), including impaired sensory processing and sensorimotor gating.
Ella Elizabeth Doornaert, Alaa El-Cheikh Mohamad, Gurwinder Johal, Brian Leonard Allman, Dorit Möhrle, Dorit Möhrle, Susanne Schmid, Susanne Schmid   +7 more
doaj   +2 more sources

CNTNAP2 mutations and autosomal dominant epilepsy with auditory features

Epilepsy Research, 2018
Autosomal dominant epilepsy with auditory features (ADEAF) is clinically characterized by focal seizures with prominent auditory or aphasic auras and absence of structural brain abnormalities.
Leonardi, Emanuela, ASPROMONTE, MARIA CRISTINA, Tosatto, Silvio C. E., Dazzo, Emanuela, Michelucci, Roberto, Stefano Pascarelli, PASCARELLI, STEFANO, Emanuela Leonardi, Carlo Nobile, Tabaro, Francesco, Francesco Tabaro, Emanuela Dazzo, Alessandra Murgia, Maria Cristina Aspromonte, Silvio C.E. Tosatto, Nobile, Carlo, Murgia, Alessandra, Roberto Michelucci   +17 more
core   +5 more sources

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

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   +2 more sources

Dissociating the Effects of Light at Night from Circadian Misalignment in a Neurodevelopmental Disorder Mouse Model Using Ultradian Light–Dark Cycles [PDF]

Clocks & Sleep
Individuals with neurodevelopmental disorders (NDDs) often experience sleep disturbances and are frequently exposed to light during nighttime hours. Our previous studies using the Contactin-associated protein-like 2 (Cntnap2) knockout (KO) mouse model of
Sophia Anne Marie B. Villanueva, Huei-Bin Wang, Kyle Nguyen-Ngo, Caihan Tony Chen, Gemma Stark, Gene D. Block, Cristina A. Ghiani, Christopher S. Colwell   +7 more
doaj   +2 more sources

Identification and validation of CNTNAP2/PAX1 hypermethylation as an epigenetic biomarker panel for detection of cervical cancer and precancerous lesions in hrHPV-positive women [PDF]

BMC Cancer
Background Cervical cancer remains a significant global health burden, and effective triage strategies are urgently needed for high-risk human papillomavirus (hrHPV)-positive women in screening programs.
Yuying He, Haiyan Yang, Chuang Zhang, Ruiwei Jiang, Kai Kang, Yuxue Wang, Dixian Luo, Dan Xiong   +7 more
doaj   +2 more sources

Dim light at night disrupts the sleep-wake cycle and exacerbates abnormal EEG activity in Cntnap2 knockout mice: implications for autism spectrum disorders [PDF]

Molecular Autism
Background Epilepsy is a common comorbidity in individuals with autism spectrum disorders (ASDs). Many patients with epilepsy as well as ASD experience disruptions in their sleep-wake cycle and daily fluctuations in symptom severity.
Yumeng Wang, Ketema N. Paul, Gene D. Block, Tom Deboer, Christopher S. Colwell   +4 more
doaj   +2 more sources

CASPR2 Autoimmune Antibodies Induce Neuronal Hyperactivity in Human Brain Organoids. [PDF]

J Neurochem
Maternal antibodies targeting CASPR2 are a known risk factor for neurodevelopmental disorders, yet their impact on early human brain development remains unclear. We modeled this exposure using human neural organoids treated with patient‐derived CASPR2 antibodies up to the age of 6 months.
Oliveira AR, Cammarata G, Seabra C, Cardoso AM, Santos HJ, Guedes J, Sequeira D, Santos JMM, Oliveira G, Cardoso AL, Fernandes D, Leite MI, Coutinho E, Carvalho AL, Ferreira L, Peça J.   +15 more
europepmc   +2 more sources