A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation

S. E. O'Connor*, D. J. Kwiatkowski, P. S. Roberts, R. L. Wollmann, P. R. Huttenlocher

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

36 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)409-412
Number of pages4
JournalNeurology
Volume61
Issue number3
DOIs
StatePublished - Aug 12 2003
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation'. Together they form a unique fingerprint.

Cite this