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Article

A family with seizures and minor features of tuberous sclerosis and a novel <i>TSC2</i> mutation

12 Aug 2003

Abstract excerpt

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...

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Identifiers

PMID: 12913212
DOI: 10.1212/01.wnl.0000073272.47681.bb

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