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20 patient data entries collated from reference Tzoulis et al, 2006. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 382 | A467T2
| A467T2
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy | | - | movement disorder (ataxia) | |
| | 20 | 15 | n/a | | 383 | W748S5
E1143G
| A467T2
| Presented with epilepsy, headaches, epilepsy, status epilepticus, headaches, nystagmus, and neuropathy. Sodium valproate treatment for 2 months then stopped 2 months prior to death. Liver dysfunction, liver transplant 1 month prior to death, cause of death liver failure. Hepatic histology showed acute liver necrosis. | | | n/a | 20 | 20 | | 384 | W748S5
E1143G
| A467T2
| Presented with progressive gait unsteadiness, ataxia, headaches, neuropathy, PEO ptosis onset age 25 | | - | movement disorder (ataxia) | |
| | 43 | 24 | n/a | | 385 | W748S5
E1143G
| A467T2
| Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy. Sodium valproate treatment for 8 months. Stopped just prior to death. Liver dysfunction, cause of death liver failure. Hepatic histology showed acute liver necrosis. | | - | movement disorder (ataxia) | |
| | n/a | 10 | 10 | | 386 | W748S5
E1143G
| A467T2
| Presented with epilepsy and headaches, ataxia, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 6 weeks prior to death. Liver dysfunction, cause of death status epilepticus and liver failure. Hepatic histology showed acute liver necrosis. | | - | movement disorder (ataxia) | |
| | n/a | 19 | 19 | | 387 | E1143G
W748S5
| A467T2
| Presented with progressive gait unsteadiness, ataxia, headaches, myoclonus, neuropathy, PEO, ptosis onset at age 44 | | - | movement disorder (ataxia) | |
| | 50 | 36 | n/a | | 388 | W748S5
E1143G
| A467T2
| Presented with epilepsy, status epilepticus, headaches, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 7 weeks prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus. Hepatic histology showed centrolobular degeneration. | | | n/a | 15 | 21 | | 389 | W748S5
E1143G
| A467T2
| Presented with epilepsy and headaches, ataxia, epilepsy, status epilepticus, myoclonus, neuropathy. Sodium valproate treatment 7 weeks prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus. Hepatic histology showed centrolobular degeneration. | | - | movement disorder (ataxia) | |
| | n/a | 14 | 23 | | 390 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 3 months prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus and multi-organ failure. Acute liver necrosis | | - | movement disorder (ataxia) | |
| | n/a | 8 | 9 | | 391 | W748S5
E1143G
| W748S5
E1143G
| Presented with speech delay, ataxia, epilepsy, status epilepticus, and headaches. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus, multi-organ failure. Hepatic histology showed marked steatosis. | | - | movement disorder (ataxia) | |
| | n/a | 8 | 9 | | 392 | E1143G
W748S5
| E1143G
W748S5
| Presented with epilepsy, status epilepticus, nystagmus, neuropathy | | | 18 | 17 | n/a | | 393 | W748S5
E1143G
| W748S5
E1143G
| Presented with progressive gait unsteadiness, ataxia, epilepsy, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset age 30. Mild liver dysfunction. Cause of death status epilepticus. | | - | movement disorder (ataxia) | |
| | n/a | 4 | 30 | | 394 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, ataxia, status epilepticus, headaches, nystagmus, myoclonus, neuropathy, treatment with sodium valproate for 2 months, died 3 years later due to status epilepticus, disseminated intravascular coagulation, liver failure. | | - | movement disorder (ataxia) | |
| | n/a | 10 | 22 | | 395 | E1143G
W748S5
| W748S5
E1143G
| Presented with progressive gait unsteadiness and headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy. Died 2 months after treatment with sodium valproate, cause of death status epilepticus | | - | movement disorder (ataxia) | |
| | n/a | 15 | 57 | | 396 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, nystagmus, neuropathy, PEO/ Ptosis onset age >30 | | - | movement disorder (ataxia) | |
| | 38 | 12 | n/a | | 397 | E1143G
W748S5
| W748S5
E1143G
| Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy | | - | movement disorder (ataxia) | |
| | 19 | 18 | n/a | | 398 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy | | - | movement disorder (ataxia) | |
| | 27 | 17 | n/a | | 399 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy, ptosis/ PEO onset at age 26 | | - | movement disorder (ataxia) | |
| | 38 | 17 | n/a | | 400 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset at age 28. Acute liver failure after 4 months of sodium valproate treatment | | - | movement disorder (ataxia) | |
| | 33 | 19 | n/a | | 401 | | W748S5
E1143G
| Presented with epilepsy, ataxia, nystagmus, neuropathy, ptosis/ PEO onset at age 65 | | - | movement disorder (ataxia) | |
| | 74 | 55 | 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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