Severe myoclonic epilepsy of infancy: Extended spectrum of GEFS( )?
R Singh, E Andermann, WPA Whitehouse, AS Harvey, DL Keene, MH Seni, KM Crossland, F Andermann, SF Berkovic, IE Scheffer
EPILEPSIA | WILEY | Published : 2001
PURPOSE: Severe myoclonic epilepsy of infancy (SMEI) is an intractable epilepsy of early childhood of unknown etiology. It is often associated with a family history of seizure disorders, but epilepsy phenotypes have not been well described. We sought to characterize the seizure phenotypes of relatives to better understand to the genetic basis of SMEI. METHODS: Probands with SMEI were identified, and systematic family studies were performed. Epilepsy syndromes were characterized in affected family members. RESULTS: Twelve probands with SMEI were identified. Eleven of the 12 probands with SMEI had a family history of seizures, and the twelfth was the result of a consanguineous marriage. We fou..View full abstract