|
19 patient data entries in database for mutations G848S and W748S. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 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] | | 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] | | 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] | | 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 | | | 6.6 | 7.8 | n/a | Wolf et al, 2009; [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] | | 312 | G848S1
| W748S5
| seizure onset at 2 years, complex partial seizure and epilepsia partialis continua myoclonus, Truncal ataxia, intention tremor | | - | movement disorder (ataxia) | |
| | 2 | 4 | n/a | Saneto et al, 2010; [view data] | | 316 | G848S1
| W748S5
| Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers | | - | movement disorder (ataxia) | |
| | 2 | n/a | 6.33 | Hunter et al, 2011; [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] | | 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: 19
Avg age of onset in displayed cases: 3.1
Std dev in onset in displayed cases: 3.1
|