Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype

Key Points

• Genetic variations were identified in 1215 patients with Dravet syndrome, indicating a broad genotypic spectrum.
• Notable mutations linked to Dravet syndrome were found, showcasing distinct phenotypic expressions.
• Analysis focused on genotypic diversity within Dravet syndrome groups, underscoring the complexity of this condition.
• Findings highlight the need for personalized approaches in managing Dravet syndrome based on identified mutations.