PURPOSE: Choreoacanthocytosis (ChAc) is an autosomal recessive disorder caused by mutations in VPS13A on chromosome 9q21 and characterized by neurodegeneration and red cell acanthocytosis. Seizures are not uncommon in ChAc but have not been well characterized in the literature. We report two ChAc families in which patients presented with temporal lobe epilepsy. METHODS: Detailed medical and family histories were obtained. EEG, video-telemetry, brain magnetic resonance imaging (MRI) with volu...Expand abstract
- Publication status:
- Publisher copy:
- Copyright date:
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.
Views and Downloads
If you are the owner of this record, you can report an update to it here: Report update to this record