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2 patient data entries in database for clusters 1 and 3 in age group "childhood". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 186 | R1047W3
| T851A1
| Juvenile Alpers, migraines at 12 years, ataxia, peripheral neuropathy, seizures, VPA-induced hepatopathy. | | - | movement disorder (ataxia) | |
| | 12 | n/a | 17 | Wiltshire et al, 2008; [view data] | | 195 | R1081Q3
| A862T1
| Onset at 2.5 years with epilepsy, diagnosed as Alpers. Complex IV 33%. showed psychomotor regression around age 2.5 years, and developed repetitive generalized tonic–clonic seizures. Myoclonic jerks. | | | 3 | 7 | n/a | Ferreira et al, 2011; [view data] |
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. Number of displayed patient cases: 2
Avg age of onset in displayed cases: 7.5
Std dev in onset in displayed cases: 4.5
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