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2 patient data entries collated from reference Stricker et al, 2009. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 192 | R964C1
| A862T1
| Progressively focal motor and tonic-clonic seizures, delayed psychomotor development, sensoriaxonal neuropathy, mild tetraparesis, cerebellar syndrome, intestinal pseudoobstruction, died via refractory status epilepticus. | | - | demyelinating neuropathy | |
| | n/a | 5 | 23 | | 193 | R964C1
| A862T1
| Progressive cerebellar ataxia, neuropathy, restless legs syndrome, hemihypesthia, myoclonic epileptic seizures, severe ataxia, dysphagia, muscle strength preserved, migraines, headaches, abdominal pain, death via prolonged status epilepticus. | | - | movement disorder (ataxia) | |
| | n/a | 15 | 27 |
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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