Dravet syndrome: a new causative SCN1A mutation?

Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.

Detalles Bibliográficos
Autores principales: Poryo, Martin, Clasen, Oriana, Oehl‐Jaschkowitz, Barbara, Christmann, Alexander, Gortner, Ludwig, Meyer, Sascha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412774/
https://www.ncbi.nlm.nih.gov/pubmed/28469861
http://dx.doi.org/10.1002/ccr3.787

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412774/
https://www.ncbi.nlm.nih.gov/pubmed/28469861
http://dx.doi.org/10.1002/ccr3.787

Ejemplares similares