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1 patient data entry in database for clusters W748S and 2 in age group "childhood".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
176L752P2
W748S5
E1143G
Epilepsy, seizures, VPA induced liver failure.
-epilepsy
-liver failure
childhood
7n/a10Zsurka et al, 2008;

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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.

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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