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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.
Autores principales: | Poryo, Martin, Clasen, Oriana, Oehl‐Jaschkowitz, Barbara, Christmann, Alexander, Gortner, Ludwig, Meyer, Sascha |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
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Materias: | |
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 |
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