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
_version_ 1783233071262203904
author Poryo, Martin
Clasen, Oriana
Oehl‐Jaschkowitz, Barbara
Christmann, Alexander
Gortner, Ludwig
Meyer, Sascha
author_facet Poryo, Martin
Clasen, Oriana
Oehl‐Jaschkowitz, Barbara
Christmann, Alexander
Gortner, Ludwig
Meyer, Sascha
author_sort Poryo, Martin
collection PubMed
description 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.
format Online
Article
Text
id pubmed-5412774
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-54127742017-05-03 Dravet syndrome: a new causative SCN1A mutation? Poryo, Martin Clasen, Oriana Oehl‐Jaschkowitz, Barbara Christmann, Alexander Gortner, Ludwig Meyer, Sascha Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-03-18 /pmc/articles/PMC5412774/ /pubmed/28469861 http://dx.doi.org/10.1002/ccr3.787 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Poryo, Martin
Clasen, Oriana
Oehl‐Jaschkowitz, Barbara
Christmann, Alexander
Gortner, Ludwig
Meyer, Sascha
Dravet syndrome: a new causative SCN1A mutation?
title Dravet syndrome: a new causative SCN1A mutation?
title_full Dravet syndrome: a new causative SCN1A mutation?
title_fullStr Dravet syndrome: a new causative SCN1A mutation?
title_full_unstemmed Dravet syndrome: a new causative SCN1A mutation?
title_short Dravet syndrome: a new causative SCN1A mutation?
title_sort dravet syndrome: a new causative scn1a mutation?
topic Case Reports
url 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
work_keys_str_mv AT poryomartin dravetsyndromeanewcausativescn1amutation
AT clasenoriana dravetsyndromeanewcausativescn1amutation
AT oehljaschkowitzbarbara dravetsyndromeanewcausativescn1amutation
AT christmannalexander dravetsyndromeanewcausativescn1amutation
AT gortnerludwig dravetsyndromeanewcausativescn1amutation
AT meyersascha dravetsyndromeanewcausativescn1amutation

Ejemplares similares