Article
Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.
BioMed research international - 1 Jan 2019
Al Mehdi Krami, Fouad Benhnini, Zouhair Elkarhat, Boutaina Belkady, Yassine Naasse, Chaimaa Ait El Cadi, Najat Sifeddine, Hassan Rouba, Rachida Roky, Abdelhamid Barakat, Halima Nahili
Abstract excerpt
Early Infantile Epileptic Encephalopathy (known as Ohtahara Syndrome) is one of the most severe and earliest forms of epilepsy, characterized by early seizures onset. It affects newborns and children between two and six years old. Among the genes that have been associated with early infantile epileptic encephalopathy, the STXBP1 gene, which encodes the Syntaxin binding protein1a that is involved in SNARE complex...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.