EXploring novEl Molecular Determinants of DRAvet Syndrome Phenotype Heterogeneity

Launched by FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS · Apr 15, 2024

Keywords

ClinConnect Summary

Dravet Syndrome (DS) is characterized as both an epileptic encephalopathy, where seizures contribute to phenotype severity, and a developmental encephalopathy, where genetic background directly impacts developmental delay independently from seizure activity. The syndrome exhibits significant heterogeneity in phenotype severity, with polymorphic seizures typically occurring before age 12 months and progressing with varying severity. Additionally, cognitive and behavioral impairments become apparent during the second year of life or later, worsening with age and seizure frequency. Factors lim...

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Eligibility criteria

• Inclusion Criteria:
• • Confirmed clinical diagnosis of Dravet Syndrome;
• • Identification of a pathogenic variant in the SCN1A gene;
• • Age between 18 and 35 years.
• Exclusion Criteria:
• • - The presence of a significant neurological condition unrelated to Dravet Syndrome.