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3 patient data entries collated from reference Saneto et al, 2010. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 310 | R597W2
| R597W2
| Complex partial seizures at age 14, treated with VPA. In 2 months, he had bilateral foot drop, pes cavus, and mild ophthalmoplegia without obvious cognitive abnormality and peripheral neuropathy, pancreatitis that progressed to multiple organ failure including kidneys, liver, lung, and pancreas. VPA was stopped, ragged red fibers, and COX-negative fibers, Although VPA was stopped, his liver function impairment progressed. Despite aggressive supportive care, he unfortunately died of sepsis and adult respiratory distress syndrome 27 days after the biopsy | | | 18 | 14 | 18.5 | | 311 | G848S1
| A467T2
| Cyclic vomiting, episodic hypoglycemia then seizure onset at 6 years, generalized seizures, GI dysmotility, eyelid ptosis,ophthalmoplegia, sensorineural hearning loss, absent smooth pursuit eye movements | | | 11 | 6 | n/a | | 312 | G848S1
| W748S5
| seizure onset at 2 years, complex partial seizure and epilepsia partialis continua myoclonus, Truncal ataxia, intention tremor | | - | movement disorder (ataxia) | |
| | 4 | 2 | 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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