Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Danielle S. Takacs"'
Autor:
Peter Müller, Danielle S. Takacs, Ulrike B. S. Hedrich, Rohini Coorg, Laura Masters, Kevin E. Glinton, Hongzheng Dai, Jon A. Cokley, James J. Riviello, Holger Lerche, Edward C. Cooper
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 4, Pp 656-663 (2023)
Abstract Precision medicine for Mendelian epilepsy is rapidly developing. We describe an early infant with severely pharmacoresistant multifocal epilepsy. Exome sequencing revealed the de novo variant p.(Leu296Phe) in the gene KCNA1, encoding the vol
Externí odkaz:
https://doaj.org/article/3e01a3140cb74934be0643625cd200a3
Publikováno v:
The Journal of Pediatrics. :113387
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3309cf03dc7c920d5e81858fe4ca53b
https://doi.org/10.1016/j.jpeds.2023.02.035
https://doi.org/10.1016/j.jpeds.2023.02.035