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1 patient data entry collated from reference Hinnell et al, 2012.

allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
Presented with generalized epilepsy and mild long-standing learning difficulties requiring special education, developed liver failure after taking valproate, migraines, right-sided epilepsia partialis continua, myoclonic arm jerks, a pancerebellar syndrome, and progressive cognitive impairment. mild external ophthalmoplegia, saccadic pursuit, writhing tongue movements, dysarthria, bilateral dysdiadochokinesis and dysmetria, mild sensory axonal peripheral neuropathy, ptosis
-epilepsia partialis
-peripheral neuropathy
-external ophthalmoplegia
-liver failure
-headache/ migraine

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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