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1 patient data entry collated from reference Hinnell et al, 2012. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 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 | |
| | n/a | 15 | 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.
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