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

allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
Presented with focal epileptic seizures, external ophthalmoplegia and gait unsteadiness. At age 28, during her first pregnancy, she was admitted with focal epileptic seizures that were highly resistant to treatment. Two months later her symptoms worsened and included myoclonic jerks in the extremities and facial dyskinesias. Treatment with sodium valproate resulted in acute severe hepatic failure and she underwent a successful liver transplantation. At 35 mild cognitive deficit, cerebellar dysarthria, palatal tremor, facial dyskinesias, myoclonus, cerebellar and sensory ataxia and signs of peripheral neuropathy with loss of reflexes and sensory disturbance were also present
-myoclonic seizures
-movement disorder (ataxia)
-sensory ataxia
-peripheral neuropathy
-external ophthalmoplegia
-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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