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.

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.

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