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1 patient data entry collated from reference Bao et al, 2008.

allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
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
-status epilepticus
-sensomotor neuropathy
-liver failure

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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