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1 patient data entry collated from reference Flemming, et al 2002.

allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
703Splice site
mental and motor developmental delay. At the age of 7 years, strabismus convergens\\ occurred. headache and nausea and\\ then presented with a generalized tonic-clonic seizure. myoclonia, focal motor seizures evolved into epilepsia partialis continua. Alpers. During the first 4 months of his illness, the boy became blind and incontinent and lost his ability to walk freely. During the\\ ensuing years, a further slight loss of mental and motor capabilities and several episodes of status epilepticus occurred.
-status epilepticus
-epilepsia partialis
-headache/ migraine
-developmental delay
-Alpers syndrome

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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