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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.

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Dettagli Bibliografici
Pubblicato in:Clin Case Rep
Autori principali: Poryo, Martin, Clasen, Oriana, Oehl‐Jaschkowitz, Barbara, Christmann, Alexander, Gortner, Ludwig, Meyer, Sascha
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2017
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5412774/
https://ncbi.nlm.nih.gov/pubmed/28469861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.787
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