Abstract

Researchers at the National Hospital, Queen Square, Great Ormond Street Hospital, and other centers in the UK and Melbourne, Australia identified a series of 22 adult patients (median age 39 years; range 20-66), including 3 post-mortem cases with Dravet syndrome.

Highlights

  • Researchers at the National Hospital, Queen Square, Great Ormond Street Hospital, and other centers in the UK and Melbourne, Australia identified a series of 22 adult patients, including 3 post-mortem cases with Dravet syndrome

  • A family history of epilepsy and/or febrile seizures was present in 9 (41%) adult patients

  • Testing for SCN1A mutations and the diagnosis of Dravet syndrome should be considered in adults with a long history of seizures resistant to anticonvulsant therapy and fever sensitivity

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Summary

Introduction

Researchers at the National Hospital, Queen Square, Great Ormond Street Hospital, and other centers in the UK and Melbourne, Australia identified a series of 22 adult patients (median age 39 years; range 20-66), including 3 post-mortem cases with Dravet syndrome. SCN1A mutations were found in 12 (60%) of 20 adult patients, novel in 11. A family history of epilepsy and/or febrile seizures was present in 9 (41%) adult patients. Seizure onset in infancy was triggered by vaccination in 11 (41%) cases, pertussis or triple vaccine.

Results
Conclusion

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