Article
Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to Early Infantile Epileptic Encephalopathy.
International journal of molecular sciences - 5 Aug 2022
Biembengut Ísis V, Shigunov Patrícia, Frota Natalia F, Lourenzoni Marcos R, de Souza Tatiana A C B
Abstract excerpt
The CYFIP2 protein (cytoplasmic FMR1-interacting protein 2) is part of the WAVE regulatory complex (WRC). CYFIP2 was recently correlated to neurological disorders by the association of the R87C variant with early infantile epileptic encephalopathy (EIEE) patients. In this set of syndromes, the epileptic spasms and seizures since early childhood lead to impaired neurological development in children. Inside the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
