title: A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation.
abstract: The authors studied nine members of a family that demonstrated a limited form of tuberous sclerosis complex (TSC). Cutaneous findings were limited to hypopigmented macules in four patients. Five family members had recurrent seizures, and three of these had migrational defects of the cerebral mantle. Mutational analysis of TSC2 indicated the presence of the novel missense change 3106T-->C, 1036S-->P in all family members with seizures. The findings suggest that this mild variant form of TSC is due to a novel TSC2 mutation.
authors.affiliation: University of Chicago Hospitals, Chicago, IL, USA. CoreyOC@aol.com
authors.forename: S E
authors.initials: SE
authors.lastname: O'Connor
authors.forename: D J
authors.initials: DJ
authors.lastname: Kwiatkowski
authors.forename: P S
authors.initials: PS
authors.lastname: Roberts
authors.forename: R L
authors.initials: RL
authors.lastname: Wollmann
authors.forename: P R
authors.initials: PR
authors.lastname: Huttenlocher
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D017966:Pyramidal Cells / Q000473:pathology; D012097:Repressor Proteins / Q000235:genetics*; D012640:Seizures / Q000150:complications / Q000235:genetics* / Q000601:surgery; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
chemical_list: D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins