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12 patient data entries in database for mutations G848S and E1143G. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 155 | G848S1
| G746S5
E1143G
| Ataxia, PEO, axonal neuropathy, cerebellar atrophy. 3% COX deficient fibers. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 16 | n/a | n/a | Stewart et al, 2009; [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] | | 170 | G848S1
| W748S5
E1143G
| Partial status epilepticus, epilepsia partialis, continua, hemiparesis, myoclonus, loss of vision, optical atrophy, pschomotor regression, liver dysfunction, death via pneumonia. | | | 1 | n/a | 11 | Isohanni et al, 2011; [view data] | | 237 | W748S5
E1143G
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis. | | | 0.1 | n/a | 0.9 | Davidzon et al, 2005; [view data] | | 252 | W748S5
E1143G
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion | | | 0.7 | n/a | 2.5 | Davidzon et al, 2005; [view data] | | 253 | W748S5
E1143G
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis, | | | 1 | n/a | 6.5 | Davidzon et al, 2005; [view data] | | 255 | W748S5
E1143G
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, microvesicular steatosis, fibrosis | | | 0.3 | n/a | 1 | Davidzon et al, 2005; [view data] | | 257 | W748S5
E1143G
| G848S1
| Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic acidemia | | | 1 | n/a | 1.7 | Nguyen et al, 2005; [view data] | | 478 | G848S1
| Q497H2
W748S5
E1143G
| The index patient presented at the age of 8 months with microcephaly, seizures, and developmental delay. From the time of the first observation she rapidly developed epilepsia partialis continua, multifocal myoclonic jerks, and progressive psychomotor retardation. MRI performed at 8 months was generally unremarkable. By 9 months of age the brain MRI showed signifi cant changes including a diffuse severe cerebral and cerebellar atrophy involving gray and white matter. | | | n/a | 0.6 | 1 | Brunetti-Pierri et al, 2008; [view data] | | 479 | G848S1
| Q497H2
W748S5
E1143G
| He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed. | | | 0.5 | 1.25 | n/a | Brunetti-Pierri et al, 2008; [view data] | | 480 | G848S1
| Q497H2
W748S5
E1143G
| He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed. | | | 0.5 | 1.25 | n/a | Brunetti-Pierri et al, 2008; [view data] | | 641 | G848S1
| Q497H2
W748S5
E1143G
| developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome. | | | 1 | n/a | n/a | Wong et al, 2008; [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: 12
Avg age of onset in displayed cases: 2.4
Std dev in onset in displayed cases: 4.4
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