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10 patient data entries in database for clusters W748S and 1 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 | | | 163 | T914P1
| W748S5
| Seizures. 98% mtDNA copy number in blood. | | | n/a | 5 | n/a | Tang et al, 2011; [view data] | | 165 | R852H1
| W748S5
| Alpers. 46% mtDNA copy number in blood. | | | n/a | 3 | n/a | Tang et al, 2011; [view data] | | 169 | G848S1
| W748S5
E1143G
| Onset at 6.5 years with alpers syndrome and death at 7.8 years. 23% mtDNA copy number in liver. | | | 6.5 | n/a | 7.8 | Taanman et al, 2009; [view data] | | 171 | G848S1
| W748S5
| Headaches/migrains, seizures, intractable seizure, cortical blindness. 32% mtDNA copy number in blood. | | | n/a | 7 | n/a | Tang et al, 2011; [view data] | | 173 | G848S1
| W748S5
| Hypotonia, myoclonus, or myoclonic seizures, intractable seizure, hepatic failure, abnormal EEG. 38% mtDNA copy number in blood. | | | n/a | 5 | n/a | Tang et al, 2011; [view data] | | 174 | G848S1
| W748S5
| Reported as Alpers, onset at 6 years, presenting encephalopathy with epilepsy, hepatopathy absent, and movement disorder (ataxia). | | - | movement disorder (ataxia) | |
| | 6 | n/a | n/a | Ashley et al, 2008; [view data] | | 197 | W748S5
| T914P1
| reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 15% mtDNA copy number in liver. | | - | movement disorder (ataxia) | |
| | 4 | n/a | n/a | Ashley et al, 2008; [view data] | | 288 | G848S1
| W748S5
| status epilepticus onset epilepsia partialis continua, elevated CSF lactate, elevated CSF protein, | | | 10.67 | n/a | 11.5 | Wolf et al, 2009; [view data] | | 317 | G848S1
| W748S5
| Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, Alpers | | - | movement disorder (ataxia) | |
| | 6 | n/a | 6.75 | Hunter et al, 2011; [view data] | | 440 | T914P1
| W748S5
| Refractory generalized epilepsy with status epilepticus, hepatic cholestasis and cytolysis, proximal tubulopathy, hyperintensity of thalamus. mtDNA depletion. | | | 6 | n/a | n/a | Rouzier et al, 2013; [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: 10
Avg age of onset in displayed cases: 5.9
Std dev in onset in displayed cases: 1.9
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