Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

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. Re...

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Main Authors: Saada Alame, Eliane El-Houwayek, Caroline Nava, Sandra Sabbagh, Ali Fawaz, Anne-Celine Gillart, Dana Hasbini, Christel Depienne, André Mégarbané
Format: Article
Language:English
Published: Wiley 2019-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2019/5270503
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author Saada Alame
Eliane El-Houwayek
Caroline Nava
Sandra Sabbagh
Ali Fawaz
Anne-Celine Gillart
Dana Hasbini
Christel Depienne
André Mégarbané
author_facet Saada Alame
Eliane El-Houwayek
Caroline Nava
Sandra Sabbagh
Ali Fawaz
Anne-Celine Gillart
Dana Hasbini
Christel Depienne
André Mégarbané
author_sort Saada Alame
collection DOAJ
description 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.
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institution Kabale University
issn 1687-9627
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language English
publishDate 2019-01-01
publisher Wiley
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series Case Reports in Medicine
spelling doaj-art-4ccf3fdfa3144f5b8e28c70939aebf7c2025-02-03T07:24:28ZengWileyCase Reports in Medicine1687-96271687-96352019-01-01201910.1155/2019/52705035270503Dravet Syndrome in Lebanon: First Report on Cases with SCN1A MutationsSaada Alame0Eliane El-Houwayek1Caroline Nava2Sandra Sabbagh3Ali Fawaz4Anne-Celine Gillart5Dana Hasbini6Christel Depienne7André Mégarbané8Neuropediatrics Department, Lebanese University, Beirut, LebanonPediatrics, Lebanese University, Beirut, LebanonInserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, FranceService de Pediatrie, Hotel-Dieu de France, Beirut, LebanonNeuropediatrics Department, Lebanese University, Beirut, LebanonInstitut Jérôme Lejeune, Paris, FranceNeuropediatrics Department, Rafic Hariri University Hospital, Beirut, LebanonInserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, FranceInstitut Jérôme Lejeune, Paris, FranceDravet 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.http://dx.doi.org/10.1155/2019/5270503
spellingShingle Saada Alame
Eliane El-Houwayek
Caroline Nava
Sandra Sabbagh
Ali Fawaz
Anne-Celine Gillart
Dana Hasbini
Christel Depienne
André Mégarbané
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
Case Reports in Medicine
title Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
title_full Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
title_fullStr Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
title_full_unstemmed Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
title_short Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
title_sort dravet syndrome in lebanon first report on cases with scn1a mutations
url http://dx.doi.org/10.1155/2019/5270503
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