GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

OBJECTIVE: Early-onset epileptic encephalopathies have been associated with de novo mutations of numerous ion channel genes. We employed techniques of modern translational medicine to identify a disease-causing mutation, analyze its altered behavior, and screen for therapeutic compounds to treat the...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Pierson, Tyler Mark, Yuan, Hongjie, Marsh, Eric D, Fuentes-Fajardo, Karin, Adams, David R, Markello, Thomas, Golas, Gretchen, Simeonov, Dimitre R, Holloman, Conisha, Tankovic, Anel, Karamchandani, Manish M, Schreiber, John M, Mullikin, James C, Tifft, Cynthia J, Toro, Camilo, Boerkoel, Cornelius F, Traynelis, Stephen F, Gahl, William A
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2014
Assuntos:
Research Papers
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4019449/
https://ncbi.nlm.nih.gov/pubmed/24839611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.39
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados