Results 111 to 120 of about 4,840 (178)

Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants

Epilepsia Open
Biallelic CNTNAP2 variants have been associated with Pitt‐Hopkins‐like syndrome. We describe six novel and one previously reported patients from six independent families and review the literature including 64 patients carrying biallelic CNTNAP2 variants.
Norman Panza, Claudia Bianchini, Valentina Cetica, Simona Balestrini, Carmen Barba, Anna Rita Ferrari, Davide Mei, Lucio Parmeggiani, Elena Parrini, Renzo Guerrini   +9 more
doaj   +1 more source

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

, 2012
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 ...
Hackmann, Karl, Bijlsma, Emilia K., Gregor, Anne, Horn, Denise, Prott, Eva, Maystadt, Isabelle, Nagl, Sandra, Klapecki, Jakub, Zweier, Christiane, Ekici, Arif B., Reis, Andre, Hoyer, Juliane, Tonschert, Sigrid, Kohlhase, Jürgen, Engels, Hartmut, Ullmann, Reinhard, Bader, Ingrid, Albrecht, Beate, Wohlleber, Eva, Rauch, Anita, Woods, Geoffrey   +20 more
core  

DOPAMINERGIC ALTERATIONS IN THE CNTNAP2 MOUSE MODEL OF AUTISM

IBRO Neuroscience Reports, 2023
Teresa Sierra-Arregui, María Prieto-Pizarro, Talia Lerner, Olga Peñagarikano   +3 more
openaire   +2 more sources

Procognitive restoration of PV neuron plasticity in neurodevelopmental disorders. [PDF]

Nature
Shih YT, Alipio JB, Klaft ZJ, Green N, Mohapatra AN, Goode TD, Panchanatham M, Pathak D, Wong LP, Sadreyev R, Hyun JH, Ahmed O, Dulla C, Sahay A.   +13 more
europepmc   +1 more source

Genetic and molecular mechanisms of the FOXP2-CNTNAP2 pathway in Autism spectrum disorders and speech disorders. [PDF]

J Neural Transm (Vienna)
Song F, Li X, Cheng C, Du J.
europepmc   +1 more source

Rest-activity patterns across development in two mouse models of autism and epilepsy. [PDF]

Epilepsia Open
Dash I, Fredlund F, Wickham J, Andersson M, Ekdahl CT.   +4 more
europepmc   +1 more source

Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay

, 2016
We identified a novel sctutural variant in CNTNAP2 gene that affect FOXP2 binding site. Although we observed an incomplete penetrance, the role of CNTNAP2 and CNTNAP2-FOXP2 interaction in brain function strongly suggests that arr 7q35(146,054,661-146,464,
Pantaleo, Marilena, Polimanti, Renato, ZITO, GIANCARLO, Squitti, Rosanna, GIGLIO, SABRINA RITA   +4 more
core  

The Tumor-suppressive role of CNTNAP2 in glioma: Dual regulation of the NDN-ERK axis and M2 macrophage polarization. [PDF]

Cancer Gene Ther
Wu Y, Zou W, Xia S, Zhang T, Yao F, Li Y, Liu X, Peng Q, Xing XL.   +8 more
europepmc   +1 more source

Aberrant protein S-nitrosylation disrupts axonal development and metabolic homeostasis in a Cntnap2 mouse model of autism. [PDF]

Redox Biol
Kartawy M, Ojha SK, Nimgampalle M, Amal H.   +3 more
europepmc   +1 more source

Nitric oxide inhibition ameliorates cortical proteomic changes in the Cntnap2^-/- and Shank3^Δ4-22 mouse models of autism spectrum disorder. [PDF]

Mol Autism
Bazbaz W, Kartawy M, Khaliulin I, Amal H.   +3 more
europepmc   +1 more source