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24 patient data entries in database for clusters 5 and 5 in age group "juvenile". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 416 | E1143G
W748S5
| E1143G
W748S5
| Seizures, status epilepticus, visual symptoms, nystagmus, valproic acid induced liver failure | | | 17 | 21 | n/a | Uusimaa et al, 2008; [view data] | | 675 | W748S5
| W748S5
| He presented with two focal seizures with jerking of the right arm and leg. Brain imaging showed a T2-hyperintense lesion in the left frontal lobe. Focal status epilepticus characterized by visual hallucinations in the left visual fields. An appendicular ataxia, nystagmus and areflexia. His level of consciousness deteriorated, evolving into a refractory subtle SE. The patient died eventually after 5 months of continuous epileptic activity due to a septic shock. | | - | movement disorder (ataxia) | |
| | 17 | 20 | 20 | Janssen et al, 2016; [view data] | | 554 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO. | | - | movement disorder (ataxia) | |
| | 15 | n/a | 57 | Tzoulis et al, 2014; [view data] | | 553 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO. | | - | movement disorder (ataxia) | |
| | 16 | n/a | 24 | Tzoulis et al, 2014; [view data] | | 550 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO. | | - | movement disorder (ataxia) | |
| | 17 | n/a | 43 | Tzoulis et al, 2014; [view data] | | 549 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy | | - | movement disorder (ataxia) | |
| | 15 | n/a | 24 | Tzoulis et al, 2014; [view data] | | 467 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 16 | n/a | 24 | Tzoulis et al, 2013; [view data] | | 464 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy. | | - | movement disorder (ataxia) | |
| | 17 | 34 | n/a | Tzoulis et al, 2013; [view data] | | 463 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 17 | n/a | 43 | Tzoulis et al, 2013; [view data] | | 451 | R627W5
| W748S5
| This previously healthy 17-year-old patient developed repeated complex partial seizures starting with visual sensations, as well as myoclonic jerks of her right arm that rapidly evolved to generalized tonic-clonic seizures. Repeated complex partial seizures and considerable mental impairment. | | | 17 | 17 | n/a | Nolte et al, 2013; [view data] | | 450 | R627W5
| W748S5
| Generalized tonic-clonic seizures which, within 3 days, evolved to epilepsia partialis continua (EPC) with continuous left-sided myoclonic jerks. Multifocal brain lesions and global brain atrophy. | | | 13 | 16 | 17 | Nolte et al, 2013; [view data] | | 417 | W748S5
E1143G
| W748S5
E1143G
| Migraine like headaches, visual symptoms, focal generalized seizures, severe liver failure, valproate induced liver failure | | | 15 | n/a | 20 | Uusimaa et al, 2008; [view data] | | 156 | W748S5
| W748S5
| reported as Alpers, onset at 16 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 108% mtDNA copy number in muscle. | | - | movement disorder (ataxia) | |
| | 16 | n/a | n/a | Ashley et al, 2008; [view data] | | 415 | W748S5
E1143G
| W748S5
E1143G
| Headache, visual symptoms, migraine-like headache, Athetosis, nystagmus, emiparesis, valproic acid induced Liver failure, sepsis, pancreatitis, status epilepticus | | | 14 | 15 | n/a | Uusimaa et al, 2008; [view data] | | 410 | W748S5
| W748S5
| Presented with focal epileptic seizures, external ophthalmoplegia and gait unsteadiness. At age 28, during her first pregnancy, she was admitted with focal epileptic seizures that were highly resistant to treatment. Two months later her symptoms worsened and included myoclonic jerks in the extremities and facial dyskinesias. Treatment with sodium valproate resulted in acute severe hepatic failure and she underwent a successful liver transplantation. At 35 mild cognitive deficit, cerebellar dysarthria, palatal tremor, facial dyskinesias, myoclonus, cerebellar and sensory ataxia and signs of peripheral neuropathy with loss of reflexes and sensory disturbance were also present | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 19 | 35 | n/a | Johansen et al, 2008; [view data] | | 400 | E1143G
W748S5
| E1143G
W748S5
| 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) | |
| | 19 | 33 | n/a | Tzoulis et al, 2006; [view data] | | 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) | |
| | 17 | 38 | n/a | Tzoulis et al, 2006; [view data] | | 398 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy | | - | movement disorder (ataxia) | |
| | 17 | 27 | n/a | Tzoulis et al, 2006; [view data] | | 397 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy | | - | movement disorder (ataxia) | |
| | 18 | 19 | n/a | Tzoulis et al, 2006; [view data] | | 395 | E1143G
W748S5
| E1143G
W748S5
| 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) | |
| | 15 | n/a | 57 | Tzoulis et al, 2006; [view data] | | 392 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, status epilepticus, nystagmus, neuropathy | | | 17 | 18 | n/a | Tzoulis et al, 2006; [view data] | | 375 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, facial Involuntary movements, Dysarthria, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, cramps | | - | movement disorder (ataxia) | |
| | 17 | 45 | n/a | Hakonen et al, 2005; [view data] | | 369 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Obesity, sensory neural hearing deficit, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 19 | 44 | n/a | Hakonen et al, 2005; [view data] | | 365 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity | | - | movement disorder (ataxia) | |
| | 16 | 37 | n/a | Hakonen et al, 2005; [view data] |
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. Number of displayed patient cases: 24
Avg age of onset in displayed cases: 16.5
Std dev in onset in displayed cases: 1.5
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