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1 patient data entry collated from reference Bao et al, 2008. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 407 | G888S1
| L83P1
| Slightly elevated hearing threshold, poor school performance, multifocal partial seizures at age 9. The seizures usually generalized and progressed to status epilepticus. Valproic acid was used for 2 and half months and then was terminated due to acute liver failure. She developed edema and coagulopathy 52 days after starting valproic acid treatment, 3 weeks later developed jaundice and hepatomegaly. Valproic acid stopped, liver function returned to normal after 6 months. After 7 months developed visual loss, axonal peripheral sensory neuropathy | | | 10 | 9 | n/a |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.
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