Novel bandlike signal abnormality suggestive of heterotopia in patient with a frameshift mutation.

Malformations of cortical development are associated with epilepsy and cognitive dysfunction, and can occur in patients with ion channel mutations. We report a novel and subtle bandlike subcortical heterotopia on integrated positron emission tomography-magnetic resonance imaging ( PET-MRI) in a patient with treatment-resistant epilepsy due to a de novo frameshift mutation. Our case highlights the potential for other channel mutations to cause both epilepsy and cortical malformations. Further scrutiny of high contrast resolution MRI studies is warranted for patients with and other epilepsy genes to further define their extended phenotype.