Acute encephalopathy in Dravet syndrome: Case reports and literature review
- Author:
Thi Thu Hang DO
;
Thi Thuy Kieu HUYNH
;
Thi Khanh Van LE
- Publication Type:Case Reports
- MeSH:
Epilepsies, Myoclonic
- From:Neurology Asia
2016;21(2):181-185
- CountryMalaysia
- Language:English
-
Abstract:
Dravet syndrome is a rare and catastrophic type of epilepsy in infants. Acute encephalopathy has
been sporadically reported in patients with Dravet syndrome; however, the risk factors for this serious
complication have not been identified. We report two patients with a clinical diagnosis of Dravet
syndrome who experienced acute encephalopathy initiated by refractory status epilepticus. SCN1A
mutational analysis revealed a previously reported nonsense mutation in one patient and a novel
missense mutation in the other. Analysis of our cases and previously published cases revealed that
patients with Dravet syndrome who have a more severe phenotype have an increased likelihood of
developing acute encephalopathy compared with patients with less severe phenotypes.
- Full text:P020160714410067869696.pdf
