| Autor: |
O’Connor, S. E., Kwiatkowski, D. J., Roberts, P. S., BA, Wollmann, R. L., Huttenlocher, P. R. |
| Zdroj: |
Neurology (Ovid); August 2003, Vol. 61 Issue: 3 p409-412, 4p |
| Abstrakt: |
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 TSC2indicated 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 TSC2mutation. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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