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1 patient data entry collated from reference Dhamija et al, 2011.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
445T914P1
A467T2
myoclonic status epilepticus, myoclonic seizures at 8 months, developmental regression, febrile upper respiratory tract infection, nearly continuous myoclonic jerks, normocephalic, nondysmorphic, diffuse hypotonia, died secondary to complications of hepatic failure.
-status epilepticus
-myoclonic seizures
-liver failure
-hypotonic
infantile
n/a0.81

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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