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Dravet syndrome: a new causative SCN1A mutation?
- Source :
- Clinical Case Reports
- Publication Year :
- 2017
- Publisher :
- John Wiley and Sons Inc., 2017.
-
Abstract
- Key Clinical Message 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.<br />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.
- Subjects :
- 0301 basic medicine
Pediatrics
medicine.medical_specialty
First year of life
Case Report
Case Reports
Scn1a mutation
03 medical and health sciences
0302 clinical medicine
Dravet syndrome
Channelopathy
severe myoclonic epilepsy of infancy
Medicine
SCN1A
business.industry
Epileptic encephalopathy
Clinical course
Clinical appearance
General Medicine
medicine.disease
030104 developmental biology
Anesthesia
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 5
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Clinical Case Reports
- Accession number :
- edsair.doi.dedup.....070508502fff049ba8e5af5b5af81016