|
1 patient data entry collated from reference Flemming, et al 2002. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 703 | Splice site
mutation:
c.3482+2T>C
| A467T2
| mental and motor developmental delay. At the age of 7 years, strabismus convergens\\ occurred. headache and nausea and\\ then presented with a generalized tonic-clonic seizure. myoclonia, focal motor seizures evolved into epilepsia partialis continua. Alpers. During the first 4 months of his illness, the boy became blind and incontinent and lost his ability to walk freely. During the\\ ensuing years, a further slight loss of mental and motor capabilities and several episodes of status epilepticus occurred. | | | 11 | 4 | n/a |
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.
|