Dravet Syndrome: A Rare Form of Epilepsy
Dravet syndrome is a rare and severe form of epilepsy that usually emerges in infancy. It is characterized by diverse seizure patterns, cognitive regression, motor impairments, and behavioral abnormalities. The majority of patients with this condition have mutations involving the voltage-gated sodiu...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-01-01
|
| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2024/6710512 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849410405147869184 |
|---|---|
| author | Salwa Al Hosani Sona Varghese |
| author_facet | Salwa Al Hosani Sona Varghese |
| author_sort | Salwa Al Hosani |
| collection | DOAJ |
| description | Dravet syndrome is a rare and severe form of epilepsy that usually emerges in infancy. It is characterized by diverse seizure patterns, cognitive regression, motor impairments, and behavioral abnormalities. The majority of patients with this condition have mutations involving the voltage-gated sodium channel alpha (I) gene SCN1A. We present a detailed account of a two-year-old child with a history of recurrent seizures since the age of 4 months. Genetic testing was performed which revealed a heterozygous pathogenic variant, confirming the diagnosis. The patient was managed successfully by a multidisciplinary approach involving neurologists, developmental specialists, and physical therapists. |
| format | Article |
| id | doaj-art-8170c1d4e6774115be8e2c7bc98aca14 |
| institution | Kabale University |
| issn | 1687-9635 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-8170c1d4e6774115be8e2c7bc98aca142025-08-20T03:35:07ZengWileyCase Reports in Medicine1687-96352024-01-01202410.1155/2024/6710512Dravet Syndrome: A Rare Form of EpilepsySalwa Al Hosani0Sona Varghese1Department of PsychiatryDepartment of PsychiatryDravet syndrome is a rare and severe form of epilepsy that usually emerges in infancy. It is characterized by diverse seizure patterns, cognitive regression, motor impairments, and behavioral abnormalities. The majority of patients with this condition have mutations involving the voltage-gated sodium channel alpha (I) gene SCN1A. We present a detailed account of a two-year-old child with a history of recurrent seizures since the age of 4 months. Genetic testing was performed which revealed a heterozygous pathogenic variant, confirming the diagnosis. The patient was managed successfully by a multidisciplinary approach involving neurologists, developmental specialists, and physical therapists.http://dx.doi.org/10.1155/2024/6710512 |
| spellingShingle | Salwa Al Hosani Sona Varghese Dravet Syndrome: A Rare Form of Epilepsy Case Reports in Medicine |
| title | Dravet Syndrome: A Rare Form of Epilepsy |
| title_full | Dravet Syndrome: A Rare Form of Epilepsy |
| title_fullStr | Dravet Syndrome: A Rare Form of Epilepsy |
| title_full_unstemmed | Dravet Syndrome: A Rare Form of Epilepsy |
| title_short | Dravet Syndrome: A Rare Form of Epilepsy |
| title_sort | dravet syndrome a rare form of epilepsy |
| url | http://dx.doi.org/10.1155/2024/6710512 |
| work_keys_str_mv | AT salwaalhosani dravetsyndromearareformofepilepsy AT sonavarghese dravetsyndromearareformofepilepsy |