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: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| 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. |
| format | Article |
| id | doaj-art-4ccf3fdfa3144f5b8e28c70939aebf7c |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| 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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