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17 patient data entries in database for mutations E1143G and A467T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
79W748S5
E1143G
A467T2
Ptosis, CPEO, polyneuropathy, cerebellar ataxia, dysarthria.
-cerebellar ataxia
-movement disorder (ataxia)
-polyneuropathy
-ptosis
-PEO
-dysarthria
adult
n/a47n/aBlok et al, 2009;

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233W748S5
E1143G
A467T2
psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and ataxia. COX-deficient muscle fibers, mtDNA deletions, 160% mtDNA copy number. He was normal until 11 years of age when he developed mild tremor and ataxia. At 13 years of age, he reported occasional migraine-like headaches and was found to have mild ataxia and myoclonus. generalized seizures. mild leftsided hemiparesis, external ophthalmoplegia, and peripheral neuropathy.
-myoclonic seizures
-hemiparesis
-intractable seizure
-movement disorder (ataxia)
-peripheral neuropathy
-cox-deficient muscle
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-headache/ migraine
-stroke-like episodes
-tremor
childhood
1124n/aKollberg et al, 2006;

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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
20n/a20Tzoulis et al, 2006;

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384W748S5
E1143G
A467T2
Presented with progressive gait unsteadiness, ataxia, headaches, neuropathy, PEO ptosis onset age 25
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
adult
2443n/aTzoulis et al, 2006;

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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
10n/a10Tzoulis et al, 2006;

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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
19n/a19Tzoulis et al, 2006;

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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
3650n/aTzoulis et al, 2006;

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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
15n/a21Tzoulis et al, 2006;

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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
14n/a23Tzoulis et al, 2006;

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411Q879H1
E1143G
A467T2
T885S1
Presented with epilepsy following minor head trauma, 2 months after valproate treatment developed persistent vomiting and encephalopathy, deranged liver function tests, prolonged clotting, elevated ammonia, and a high plasma lactate, Hepatic dysfunction progressed,
-epilepsy
-encephalopathy
-vomiting
infantile
2n/an/aMcFarland et al, 2008;

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413A467T2
W748S5
E1143G
Presented with PEO, mild bilateral ptosis, dysarthria, ataxia, and neuropathy
-movement disorder (ataxia)
-ptosis
-PEO
-dysarthria
adult
3637n/aPaus et al, 2008;

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455A467T2
W748S5
E1143G
Ataxic sensory neuropathy, dysarthria, progressive ophthalmoplegia, paresthesia of lower extremities, unsteady gait, slurred speech, absent deep tendon reflexes, vibrations, ataxic gait and positive Romberg sign. Multiple mtDNA deletions, a marked decrease in mtDNA copy number.
-movement disorder (ataxia)
-ophthalmoplegia
-dysarthria
adult
3747n/aPosada et al, 2010;

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539A467T2
W748S5
E1143G
Started as an ataxic syndrome, Alpers, ragged red fibers, COX-deficient fibers, mtDNA deletions. mtDNA copy numbers 1.6 fold. She was healthy and developed normally until her late preschool years when she developed slowly progressive ataxia. Occasional myoclonic seizures, and at 13 years of age, valproate treatment was started because of occipital seizures. ataxia, dementia, and cortical blindness. She developed refractory seizures, including multifocal EPC, status epilepticus, and myoclonus.
-status epilepticus
-myoclonic seizures
-intractable seizure
-movement disorder (ataxia)
-ragged red fibers
-dementia
-cortical blindness
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
51314Kollberg et al, 2006;

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616W748S5
E1143G
A467T2
minor tremor of the hands from age 12 years. In his late 20s, he experienced tingling in both hands, followed by tingling in the legs. In the early fourth decade, he became unsteady at walking, especially in the dark. From his early 40s, his speech became slurred (dysarthria). On examination at age 52 years, he had an ataxic gait, and Romberg test was positive. There was dysarthria and bilateral ophthalmoparesis. generalized areflexia.
-movement disorder (ataxia)
-PEO
-dysarthria
-areflexia
-tremor
childhood
1252n/aVan Goethem et al, 2004;

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627Q497H2
W748S5
E1143G
A467T2
Hearing loss, Ataxia Neuropathy Spectrum, Seizures, dementia, developmental delay
-movement disorder (ataxia)
-developmental delay
-dementia
-hearing loss
juvenile
17n/an/aWong et al, 2008;

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674E1143G
W748S5
A467T2
Migraine, ataxia, polyneuropathy. focal seizures with visual symptoms and motor signs, and secondary generalized tonic-clonic seizure. Clinical neurological examination revealed an ataxic gait and areflexia with sensory loss. Convulsive status epilepticus. Cerebral MRI revealed a left occipital and left thalamic lesion.
-status epilepticus
-focal seizures
-movement disorder (ataxia)
-polyneuropathy
-headache/ migraine
-areflexia
juvenile
172023Janssen et al, 2016;

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677W748S5
E1143G
A467T2
Presented with status epilepticus, occipital lobe seizures. Further neurologic examination showed ataxic gait and appendicular ataxia. chronic sensory axonal polyneuropathy. Cognitive decline. At follow-up consultation 6 months after the initial presentation, she had not experienced any more seizures.
-status epilepticus
-movement disorder (ataxia)
-polyneuropathy
-axonal sensorimotor polyneuropathy
juvenile
1818.7n/aJanssen et al, 2016;

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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: 17
Avg age of onset in displayed cases: 20.0
Std dev in onset in displayed cases: 11.9

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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