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Summary  Malformations of cortical development are associated with epilepsy and cognitive dysfunction, and can occur in patients with   SCN 1A  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   KCNQ 1  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   KCNQ 1  and other epilepsy genes to further define their extended phenotype.

Novel bandlike signal abnormality suggestive of heterotopia in patient with a KCNQ 1 frameshift mutation