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

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
176L752P2
W748S5
E1143G
Epilepsy, seizures, VPA induced liver failure.
-epilepsy
-liver failure
childhood
n/a710

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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