| Titre : |
CNTNAP2 Mutations in Autism |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Olga PENAGARIKANO, Auteur |
| Année de publication : |
2016 |
| Importance : |
p.177-188 |
| Langues : |
Anglais (eng) |
| Mots-clés : |
ASD Autism CDFE CNTNAP2 Social behavior |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Autism spectrum disorders (ASDs) comprise a phenotypically and genetically heterogeneous condition characterized by deficits in social behavior and communication together with the presence of repetitive and restrictive behaviors. Autism spectrum disorder has a strong genetic component and mutations/variants in many genes have been identified as predisposing to ASD. The contactin-associated protein-like 2 (CNTNAP2) gene is one of the most replicated through interdisciplinary studies, supported by neurobiological, genetic, and imaging data. An understanding of the mechanistic link between genes and behavior is critical to developing targeted treatments. This chapter discusses the clinical genetics and current understanding of the biology of CNTNAP2 as related to ASD. Current multidisciplinary research approaches in both human subjects and animal models help us understand the pathophysiology associated with the goal of developing new treatments. |
| En ligne : |
http://dx.doi.org/10.1016/B978-0-12-800109-7.00012-1 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 |
CNTNAP2 Mutations in Autism [Texte imprimé et/ou numérique] / Olga PENAGARIKANO, Auteur . - 2016 . - p.177-188. Langues : Anglais ( eng)
| Mots-clés : |
ASD Autism CDFE CNTNAP2 Social behavior |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Autism spectrum disorders (ASDs) comprise a phenotypically and genetically heterogeneous condition characterized by deficits in social behavior and communication together with the presence of repetitive and restrictive behaviors. Autism spectrum disorder has a strong genetic component and mutations/variants in many genes have been identified as predisposing to ASD. The contactin-associated protein-like 2 (CNTNAP2) gene is one of the most replicated through interdisciplinary studies, supported by neurobiological, genetic, and imaging data. An understanding of the mechanistic link between genes and behavior is critical to developing targeted treatments. This chapter discusses the clinical genetics and current understanding of the biology of CNTNAP2 as related to ASD. Current multidisciplinary research approaches in both human subjects and animal models help us understand the pathophysiology associated with the goal of developing new treatments. |
| En ligne : |
http://dx.doi.org/10.1016/B978-0-12-800109-7.00012-1 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 |
|
CNTNAP2 Mutations in Autism
