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20 patient data entries collated from reference Tzoulis et al, 2006.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
382A467T2
A467T2
Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-headache/ migraine
-nystagmus
juvenile
2015n/a
383W748S5
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.
-status epilepticus
-epilepsy
-liver failure
-liver dysfunction
-headache/ migraine
-nystagmus
adult
n/a2020
384W748S5
E1143G
A467T2
Presented with progressive gait unsteadiness, ataxia, headaches, neuropathy, PEO ptosis onset age 25
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
adult
4324n/a
385W748S5
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver failure
-liver dysfunction
-headache/ migraine
childhood
n/a1010
386W748S5
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver failure
-liver dysfunction
-headache/ migraine
-nystagmus
juvenile
n/a1919
387W748S5
E1143G
A467T2
Presented with progressive gait unsteadiness, ataxia, headaches, myoclonus, neuropathy, PEO, ptosis onset at age 44
-myoclonic seizures
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
adult
5036n/a
388W748S5
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-liver dysfunction
-headache/ migraine
-nystagmus
juvenile
n/a1521
389W748S5
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver dysfunction
-headache/ migraine
juvenile
n/a1423
390W748S5
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
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver dysfunction
-headache/ migraine
-nystagmus
childhood
n/a89
391W748S5
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.
-status epilepticus
-epilepsy
-movement disorder (ataxia)
-liver dysfunction
-headache/ migraine
childhood
n/a89
392W748S5
E1143G
W748S5
E1143G
Presented with epilepsy, status epilepticus, nystagmus, neuropathy
-status epilepticus
-epilepsy
-nystagmus
juvenile
1817n/a
393W748S5
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-ptosis
-PEO
-liver dysfunction
-headache/ migraine
childhood
n/a430
394W748S5
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver failure
-headache/ migraine
-nystagmus
childhood
n/a1022
395W748S5
E1143G
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
-status epilepticus
-epilepsy
-movement disorder (ataxia)
-headache/ migraine
-nystagmus
juvenile
n/a1557
396W748S5
E1143G
W748S5
E1143G
Presented with migraine like headaches, ataxia, nystagmus, neuropathy, PEO/ Ptosis onset age >30
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
-nystagmus
childhood
3812n/a
397W748S5
E1143G
W748S5
E1143G
Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-headache/ migraine
juvenile
1918n/a
398W748S5
E1143G
W748S5
E1143G
Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy
-status epilepticus
-epilepsy
-movement disorder (ataxia)
-headache/ migraine
-nystagmus
juvenile
2717n/a
399W748S5
E1143G
W748S5
E1143G
Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy, ptosis/ PEO onset at age 26
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
-nystagmus
juvenile
3817n/a
400W748S5
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
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-ptosis
-PEO
-liver failure
-headache/ migraine
juvenile
3319n/a
401W748S5
E1143G
Presented with epilepsy, ataxia, nystagmus, neuropathy, ptosis/ PEO onset at age 65
-epilepsy
-movement disorder (ataxia)
-ptosis
-PEO
-nystagmus
adult
7455n/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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