Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
G D'Onofrio, A Accogli, M Severino, H Caliskan… - Human Genetics, 2023 - Springer
Abstract Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a
presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic …
presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic …
Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder
JO de Jong, C Llapashtica, M Genestine… - Nature …, 2021 - nature.com
We utilized forebrain organoids generated from induced pluripotent stem cells of patients
with a syndromic form of Autism Spectrum Disorder (ASD) with a homozygous protein …
with a syndromic form of Autism Spectrum Disorder (ASD) with a homozygous protein …
The role of contactin-associated protein-like 2 in neurodevelopmental disease and human cerebral cortex evolution
F St. George-Hyslop, T Kivisild… - Frontiers in Molecular …, 2022 - frontiersin.org
The contactin-associated protein-like 2 (CNTNAP2) gene is associated with multiple
neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual …
neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual …
Impaired formation of high-order gephyrin oligomers underlies gephyrin dysfunction-associated pathologies
Gephyrin is critical for the structure, function, and plasticity of inhibitory synapses. Gephyrin
mutations have been linked to various neurological disorders; however, systematic analyses …
mutations have been linked to various neurological disorders; however, systematic analyses …
[HTML][HTML] Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal
G Barcia, G Scorrano, M Rio, C Gitiaux, M Hully… - European Journal of …, 2024 - Elsevier
Biallelic pathogenic variants in CNTNAP2, a gene encoding the contactin-associated protein-
like 2, have been reported in patients with various clinical presentations including …
like 2, have been reported in patients with various clinical presentations including …
Enhancing neuronal inhibition by cell and gene therapy as a novel treatment for epilepsy
A Gonzalez Ramos - 2022 - lup.lub.lu.se
Epilepsy is a family of heterogeneous and multifactorial neurological disorders, unified by
the occurrence of spontaneous recurrent seizures. Overall, it affects 50 million people …
the occurrence of spontaneous recurrent seizures. Overall, it affects 50 million people …
Enhancing neuronal inhibition by cell and gene therapy as a novel treatment for Epilepsy
AG Ramos - 2022 - portal.research.lu.se
Epilepsy is a family of heterogeneous and multifactorial neurological disorders, unified by
the occurrence of spontaneous recurrent seizures. Overall, it affects 50 million people …
the occurrence of spontaneous recurrent seizures. Overall, it affects 50 million people …