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
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Case reports
Mutation
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container_start_page 613
container_title Clinical case reports
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creator Poryo, Martin
Clasen, Oriana
Oehl‐Jaschkowitz, Barbara
Christmann, Alexander
Gortner, Ludwig
Meyer, Sascha
description 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.
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subjects Case reports
Mutation
title Dravet syndrome: a new causative SCN 1A mutation?
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