Dravet syndrome: a new causative SCN 1A mutation?

Dravet syndrome: a new causative SCN 1A mutation?

Dravet syndrome is often caused by SCN 1A 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. Dravet syndrome is often c...

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Veröffentlicht in:Clinical case reports 2017-05, Vol.5 (5), p.613-615
Hauptverfasser: Poryo, Martin, Clasen, Oriana, Oehl‐Jaschkowitz, Barbara, Christmann, Alexander, Gortner, Ludwig, Meyer, Sascha
Format: Artikel
Sprache:eng
Schlagworte:
Case reports
Mutation
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Zusammenfassung:Dravet syndrome is often caused by SCN 1A 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. Dravet syndrome is often caused by SCN 1A 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.787