Dravet Syndrome: An Overview.

Arsalan Anwar,Preeti Malik,Kogulavadanan Arumaithurai,Sidra Saleem,Urvish K Patel

doi:10.7759/cureus.5006

Abstract

Dravet syndrome (DS), also known as severe myoclonic epilepsy of infancy (SMEI), is one of the rare early childhood intractable epileptic encephalopathies associated with pleomorphic seizure activity, cognitive decline, motor, and behavioral abnormalities. The convulsive seizure is the most common type seen in DS. After the first episode of seizure-like activity, behavioral disorders and cognitive decline are progressive and long-lasting. The most common etiology identified in patients with DS is a de-novo genetic mutation alpha-1 subunit of voltage-gated calcium channel gene (SCN1A). DS is diagnosed clinically and if unclear, genetic testing is recommended. DS treatment options include anti-epileptic drugs and cannabinoids; ketogenic diet therapy and surgical options such as the deep brain and vagal nerve stimulation. Due to drug-refractory epilepsy in DS, many more therapies are being investigated to increase the longevity of patients.

Highlights

BackgroundDravet Syndrome (DS) was first described as severe myoclonic epilepsy of infancy (SMEI) by Charlotte Dravet in 1978 and was later renamed Dravet Syndrome in 1989 [1]
Dravet syndrome (DS), known as severe myoclonic epilepsy of infancy (SMEI), is one of the rare early childhood intractable epileptic encephalopathies associated with pleomorphic seizure activity, cognitive decline, motor, and behavioral abnormalities
It is a rare form of early-onset genetic epilepsy syndrome that manifests as intractable epilepsy and neurodevelopmental delays

Summary

Introduction

Dravet Syndrome (DS) was first described as severe myoclonic epilepsy of infancy (SMEI) by Charlotte Dravet in 1978 and was later renamed Dravet Syndrome in 1989 [1]. After the age of one year, a child can have focal or generalized tonic-clonic epilepsy or absence seizure. It may result in loss of consciousness or altered level of consciousness. One study by the International Dravet Syndrome Epilepsy Action League (IDEA League) showed that 31/833 DS patients died within 10 years. The ketogenic diet has been considered as secondline therapy in patients with suboptimal response to clobazam and valproic acid Surgical therapies such as VNS had a moderate consensus and to be considered after failure of first and second line AEDs. It was recommended not to perform temporal lobectomy in DS patients. Multiple clinical trials have shown cannabidiol efficacy in patients with DS and it has created a new hope in the DS community to better control seizure frequency and help them to manage their condition effectively

Conclusions

Disclosures

Dravet C

24. Stephani U

Findings

28. Deonna TW