Open AccessNovel bandlike signal abnormality suggestive of heterotopia in patient with a KCNQ 1 frameshift mutation
Author(s) -
Sabharwal Priyanka,
Devinsky Orrin,
M. Shepherd Timothy
Publication year - 2017
Publication title -
epilepsia open
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.247
H-Index - 16
ISSN - 2470-9239
DOI - 10.1002/epi4.12072
Subject(s) - frameshift mutation , epilepsy , haploinsufficiency , magnetic resonance imaging , abnormality , phenotype , positron emission tomography , medicine , mutation , neuroscience , psychology , biology , genetics , gene , radiology , psychiatry
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.