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5 patient data entries collated from reference Wolf et al, 2009. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 287 | G848S1
| W748S5
| Developemental delay, status epilepticus onset at 6 years 7 months, valproic acid therapy 6 weeks, liver failure with transplant, epilepsia partialis continua, elevated CSF lactate, elevated CSF protein, mtDNA depletion in liver | | | 7.8 | 6.6 | n/a | | 288 | G848S1
| W748S5
| status epilepticus onset epilepsia partialis continua, elevated CSF lactate, elevated CSF protein, | | | n/a | 10.67 | 11.5 | | 289 | A467T2
| A467T2
| Developemental delay, status epilepticus onset, valproic acid therapy 2 weeks, epilepsia partialis continua, mtDNA depletion in liver | | | 6 | 2.67 | n/a | | 290 | A467T2
| A467T2
| status epilepticus onset, valproic acid therapy 12 weeks, liver failure, | | | 11 | 9.25 | n/a | | 650 | Splice site
mutation:
novelsplicemutation
| W748S5
| Alpers. At 7 months she developed focal clonic Status epilepticus. SE subsided slowly after a continuous infusion of valproic acid. she developed severe muscular hypotonia and feeding difficulties necessitating nasogastric feeding. Twelve weeks after disease onset, she was readmitted with vomiting and pneumonia. Infantile scoliosis. | | | n/a | 0.58 | 0.83 |
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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