Opinion|Videos|September 30, 2024
Dravet Syndrome Diagnosis
Author(s)M. Scott Perry, MD
Scott Perry, MD, discusses how Dravet syndrome is diagnosed through a combination of clinical observation, genetic testing, and phenotypic evaluation, emphasizing the challenges and importance of early diagnosis to improve patient outcomes.
Advertisement
Episodes in this series
Video content above is prompted by the following:
- How is Dravet syndrome diagnosed?
- Discuss how patients are screened for Dravet syndrome.
- What is the role of genetic testing in Dravet syndrome?
- Discuss diagnosing patients based on characteristics/phenotyping.
- What are the challenges associated with Dravet syndrome diagnosis?
- Please discuss the need for early diagnosis.
Advertisement
Related to this article
Newly presented post hoc analyses examined diazepam nasal spray for status epilepticus in seizure clusters and intervals between clusters in children, alongside real-world data on rescue medication prescribing.
A retrospective 10-center U.S. study found stiripentol reduced convulsive seizure frequency, status epilepticus episodes, and emergency health care use in patients with Dravet syndrome.
A phase 1b/2 trial is testing an intrathecal antisense oligonucleotide designed to lower KCNT1 expression in children with a severe, drug-resistant epilepsy syndrome.
Here's some of what is coming soon to NeurologyLive® this week.
An analysis of the phase 3 GEMZ trial presented at CNS 2026 showed that fenfluramine produced comparable seizure reductions and safety outcomes in children and adults with CDKL5 deficiency disorder.
Here's some of what is coming soon to NeurologyLive® this week.
The FDA set a first quarter 2027 goal date for troriluzole in spinocerebellar ataxia and plans an advisory committee after a 2025 complete response letter.
A pooled analysis of 4 randomized trials found that more time with blood pressure below 130 mmHg after intracerebral hemorrhage reduced recurrent stroke risk.
Advertisement
Advertisement
Trending on NeurologyLive - Clinical Neurology News and Neurology Expert Insights
1
Clene Submits NDA Seeking Accelerated Approval for ALS Drug
2
Real-World Data Show Switch to Subcutaneous Ocrelizumab Well Tolerated
3
FDA Accepts Troriluzole NDA Resubmission for Spinocerebellar Ataxia
4
Early Data Show Dual-Targeting CAR-T Agent CTA313 Stabilizes Progressive Multiple Sclerosis
5