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

doi:10.1212/01.WNL.0000073272.47681.BB

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

38 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 language	English (US)
Pages (from-to)	409-412
Number of pages	4
Journal	Neurology
Volume	61
Issue number	3
DOIs	https://doi.org/10.1212/01.WNL.0000073272.47681.BB
State	Published - Aug 12 2003

ASJC Scopus subject areas

Clinical Neurology

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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.",

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AU - Roberts, P. S.

AU - Wollmann, R. L.

AU - Huttenlocher, P. R.

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AB - 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.

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

Abstract

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