Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
Joint Authors
Meégarbaneé, André
Alame, Saada
El-Houwayek, Eliane
Nava, Caroline
Sabbagh, Sandra
Fawaz, Ali
Gillart, Anne-Celine
Hasbini, Dana
Depienne, Christel
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-01-21
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a rare disease characterized by the appearance of different types of seizures in a healthy baby, triggered by various factors and stressful events.
We report 8 Lebanese cases referred for molecular analysis of the SCN1A gene.
Results were positive in 7 cases and revealed de novo variants at the heterozygous state in different exons of the gene for all except one, where the variant was intronic.
Four variants were novel.
Confirmation of Dravet syndrome is important for a better follow-up and treatment, preventing the occurrence of status epilepticus and severe neurological deterioration.
American Psychological Association (APA)
Alame, Saada& El-Houwayek, Eliane& Nava, Caroline& Sabbagh, Sandra& Fawaz, Ali& Gillart, Anne-Celine…[et al.]. 2019. Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations. Case Reports in Medicine،Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1140897
Modern Language Association (MLA)
Alame, Saada…[et al.]. Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations. Case Reports in Medicine No. 2019 (2019), pp.1-4.
https://search.emarefa.net/detail/BIM-1140897
American Medical Association (AMA)
Alame, Saada& El-Houwayek, Eliane& Nava, Caroline& Sabbagh, Sandra& Fawaz, Ali& Gillart, Anne-Celine…[et al.]. Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations. Case Reports in Medicine. 2019. Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1140897
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1140897