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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BlackWell Publishing Ltd 2014
Témata:
Research Papers
On-line přístup: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
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