Bilateral periventricular and subcortical heterotopia in a man with refractory epilepsy.
OBJECTIVE
To report a novel malformation in a male subject with refractory partial seizures.


METHODS
Magnetic resonance imaging (MRI) and data reformatting in a subject referred for management of partial seizures.


RESULTS
The patient had four distinct partial seizure types, without learning disability. MRI demonstrated the novel association of bilateral laminar subcortical heterotopia, bilateral temporal periventricular heterotopia, and hippocampal malformation.


CONCLUSIONS
This previously unreported complex bilateral neocortical and archicortical malformation in a male patient cannot be explained by known genetic causes of heterotopia, raising the possibility of a novel gene involved in brain formation.
Sisodiya
S M
SM
University Department of Clinical Neurology, Institute of Neurology, University College London, England. sisodiya@ion.ucl.ac.uk
Free
S L
SL
Duncan
J S
JS
Stevens
J M
JM
D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis*; D002540:Cerebral Cortex / Q000002:abnormalities; D002552:Cerebral Ventricles; D002828:Choristoma / Q000175:diagnosis* / Q000235:genetics; D004828:Epilepsies, Partial / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D007839:Functional Laterality; D006624:Hippocampus / Q000002:abnormalities; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype