Abstracts

Rationale: At the fourth international workshop on childhood epilepsy, Marseilles, France, June 23-26, 1992, Hurst presented a patient at the conference with severe myoclonic epilepsy of infancy who had suffered permanent global brain damage following a 3 and half hour convulsive event while under the care of another physician. This case was publicly rejected by Dr. Dravet. The neuroimaging studies were felt to be inconsistent with the diagnosis of severe myoclonic epilepsy of infancy at that time due to the severity of the atrophic findings on MRI. Methods: On a recent long-term follow up appointment this patient was tested for the SCN1A mutationResults: She tested positive for a previously undescribed SCN1A mutation, transversion of Thymine to Guanine at Codon position 1910, and does in fact have Dravet syndrome. Conclusions: This case originally rejected as being too severe for a diagnosis of severe myoclonic epilepsy is interesting for two reasons: first, the genetic abnormality lies at the far end of the SCN1A C-terminal, and second, the treatment modalities of this patient suggest an epigenetic phenomena relating to the outcome. The unusually poor outcome seen in this patient occurred despite periods of better seizure control which occurred twice under my direct care. Based on the availability of genetic testing, the following recommendation is made: an infant with one prolong febrile convulsion or multiple febrile convulsions, which are atypical and repeated should have SCN1A gene testing. Dravet syndrome when diagnosed should be treated aggressively with drugs beneficial for myoclonic seizures/epilepsy.