PURPOSE: @entity27448 ( @entity27448 ) is a @entity600 of cortical development due to @entity12198 resulting in the formation of nodular masses of neurons and glial cells in close proximity to the ventricular walls. We report the clinical characteristics of the largest case series of @entity18493 -negative @entity1 with @entity410 and bilateral @entity3664 . METHODS: @entity1 were recruited through the Epilepsy Phenome/Genome Project (EPGP), a multicenter collaborative effort to collect detailed phenotypic data and DNA on a large number of individuals with @entity302 , including a cohort with @entity302 related to @entity27448 . Included subjects had @entity302 , and MRI confirmed bilateral @entity27448 . Magnetic resonance imaging studies were visually and quantitatively reviewed to investigate the topographic extent of @entity27448 , symmetry, and laterality. KEY FINDINGS: We analyzed data on 71 @entity1 with bilateral @entity27448 . The incidence of @entity410 was 16.6%. There was at least one other family member with @entity302 in 36.9% of this population. @entity245 was present in 21.8%. Focal onset @entity410 were the most common type of @entity410 presentation (79.3%). @entity2101 burden was strongly associated with female gender and trigonal nodular localization. There was no evidence for differences in brain volume between @entity27448 subjects and controls. No relationship was observed between heterotopic volume and gender, developmental delay, location of @entity27448 , ventricular or @entity76 , laterality of @entity410 onset, age at @entity410 onset, and duration of @entity302 . SIGNIFICANCE: A direct correlation was observed between high @entity3664 burden, female gender, and trigonal location in this large cohort of @entity18493 -negative bilateral @entity27448 @entity1 with @entity302 . Quantitative MRI measurements indicated that this correlation is based on the diffuse nature of the heterotopic nodules rather than on the total volume of abnormal heterotopic tissue.

Phenotypic and imaging features of @entity18493 -negative XXXX with bilateral periventricular nodular heterotopia and @entity302 .

@entity1 :: ('9606', 'Species') :: ['patients', 'Participants'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizure', 'seizures', 'febrile seizures'] @entity3664 :: ('MESH:C548481', 'Disease') :: ['periventricular heterotopia', 'heterotopia'] @entity245 :: ('MESH:D002658', 'Disease') :: ['Developmental delay'] @entity12198 :: ('MESH:D054081', 'Disease') :: ['impaired neuronal migration'] @entity27448 :: ('MESH:D054091', 'Disease') :: ['Periventricular nodular heterotopia', 'PVNH'] @entity600 :: ('MESH:D000014', 'Disease') :: ['malformation'] @entity302 :: ('MESH:D004827', 'Disease') :: ['symptomatic epilepsy', 'epilepsy'] @entity2101 :: ('MESH:C538394', 'Disease') :: ['High heterotopia'] @entity18493 :: ('2316', 'Gene') :: ['FLNA'] @entity76 :: ('MESH:D002526', 'Disease') :: ['cerebellar abnormalities']
@entity1 :: (9606,Species) :: ['patients']
