|
7 patient data entries in database for mutations W748S and T914P. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 160 | T914P1
| W748S5
E1143G
| developmental delay, vomiting, partial status epilepticus, epilepsia partialis continua, myoclonus, ataxia, alive at age 3. | | - | movement disorder (ataxia) | |
| | 2.5 | 3 | n/a | Isohanni et al, 2011; [view data] | | 161 | T914P1
| W748S5
| Age 0.8, developmental delay, hypotonia, myoclinic seizures, spasticity, dystonia, exercise intolerance, GI reflux, abnormal EEG, elevated transaminases, increased signal basal ganglia, abnormal MRI, lactic acidosis, high CSF lactate. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] | | 163 | T914P1
| W748S5
| Seizures. 98% mtDNA copy number in blood. | | | n/a | 5 | n/a | Tang et al, 2011; [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] | | 339 | T914P1
| W748S5
| Presented with generalized epilepsy and mild long-standing learning difficulties requiring special education, developed liver failure after taking valproate, migraines, right-sided epilepsia partialis continua, myoclonic arm jerks, a pancerebellar syndrome, and progressive cognitive impairment. mild external ophthalmoplegia, saccadic pursuit, writhing tongue movements, dysarthria, bilateral dysdiadochokinesis and dysmetria, mild sensory axonal peripheral neuropathy, ptosis | | - | external ophthalmoplegia | |
| | 15 | n/a | n/a | Hinnell et al, 2012; [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] | | 687 | T914P1
| W748S5
| mtDNA depletion in muscle, Epilepsy, hepatopathy, movement disorder | | - | movement disorder (ataxia) | |
| | 1.1 | n/a | n/a | Ashley 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: 7
Avg age of onset in displayed cases: 4.9
Std dev in onset in displayed cases: 4.5
|