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Your search keyword '"Wollmann, R. L."' showing total 9 results
Start Over Author "Wollmann, R. L." Journal neurology
9 results on '"Wollmann, R. L."'

3. Clinical and genetic studies of fatal familial insomnia

Author

Reder, A. T., primary, Mednick, A. S., additional, Brown, P., additional, Spire, J. P., additional, Van Cauter, E., additional, Wollmann, R. L., additional, Cervenakova, L., additional, Goldfarb, L. G., additional, Garay, A., additional, Ovsiew, F., additional, Gajdusek, D. C., additional, and Roos, R. P., additional

Published
1995
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9. A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation.

Author

O'Connor SE, Kwiatkowski DJ, Roberts PS, Wollmann RL, and Huttenlocher PR

Subjects
Adolescent, Adult, Aged, Cerebral Cortex abnormalities, Cerebral Cortex pathology, Child, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Pedigree, Pyramidal Cells pathology, Seizures complications, Seizures surgery, Tuberous Sclerosis complications, Tuberous Sclerosis pathology, Tuberous Sclerosis Complex 2 Protein, Tumor Suppressor Proteins, Family, Mutation, Missense genetics, Repressor Proteins genetics, Seizures genetics, Tuberous Sclerosis genetics
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.

Published
2003
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