Published in:
01-01-2021 | Febrile Seizure | Scientific Letter
Dravet Syndrome: A Case Series
Authors:
Dipti Kapoor, Aakanksha Anand, Suvasini Sharma, Sharmila B. Mukherjee, Carla Marini, Davide Mei, Saurabh S Chopra, Akbar Mohaned Chettali
Published in:
Indian Journal of Pediatrics
|
Issue 1/2021
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Excerpt
To the Editor: Dravet syndrome (DS) is a rare but severe early-life epilepsy [
1]. The timely diagnosis of this condition requires a high degree of clinical suspicion, because the MRI is typically normal and the EEG findings are nonspecific [
2]. However, the clinical presentation is unique, with the onset of recurrent, convulsive seizures, which are often prolonged and triggered by fever, in a developmentally normal infant [
3]. Pathogenic variants in the
SCN1A gene, which code for the 1α subunit of the neuronal, voltage-gated sodium channel, are found in as many as 85% of affected children [
4]. The children eventually develop intractable seizures and neurodevelopmental impairment. …
