Novel Gene Abnormality in Epilepsy with Myoclonic-Atonic Seizures (Doose
AbstractWe present an 8-year-old with absence, generalize tonic-clonic and
myotonic-atonic seizures who was diagnosed with Doose syndrome based on
clinical presentation and EEG findings. A genetic panel found a SUOX
gene mutation which has not yet been correlated with Doose syndrome. Her
presentation does not resemble known SUOX related disorders.