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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Research Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019449/
https://www.ncbi.nlm.nih.gov/pubmed/24839611
http://dx.doi.org/10.1002/acn3.39

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019449/
https://www.ncbi.nlm.nih.gov/pubmed/24839611
http://dx.doi.org/10.1002/acn3.39

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