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13 patient data entries in database for clusters A467T and W748S in age group "juvenile".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
90W748S5
A467T2
MELAS-like, features including occipital lobe epilepsy.
-epilepsy
juvenile
n/a19n/aBlok et al, 2009;

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125W748S5
A467T2
Autistic features, headaches/migraines, ataxia, seizures, intractable seizure, optic atrophy, abnormal MRI, dystonia, posterior stroke, abnormal EEG. 101% mtDNA copy number in blood.
-intractable seizure
-movement disorder (ataxia)
-optic atrophy
-stroke
-headache/ migraine
-dystonia
juvenile
n/a18n/aTang et al, 2011;

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342A467T2
W748S5
Ataxia, dysarthria, suffered two generalized seizures, and developed severe progressive cognitive decline and psychiatric manifestations including visual and auditory hallucinations, bilateral external ophthalmoplegia, bilateral ptosis, and reduced visual acuities, bilateral sensorineural hearing loss, proximal muscle weakness in all four limbs and was areflexic, severe sensory neuropathy and myopathy,
-movement disorder (ataxia)
-muscle weakness
-myopathy
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-dysarthria
-hearing loss
juvenile
n/a1865Kinghorn et al, 2012;

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363W748S5
A467T2
Peripheral neuropathy, ataxia, epilepsy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Moderate sensory neuronopathy
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
juvenile
1618n/aLax et al, 2012a;

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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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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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439W748S5
A467T2
R-EPC (refractory epilepsia partialis continua), axonal neuropathy, cerebellar ataxia, hyperintensity of rolandic, occipital and cerebellar cortex and dentate nucleus.
-epilepsia partialis
-cerebellar ataxia
-movement disorder (ataxia)
-demyelinating neuropathy
juvenile
17n/an/aRouzier et al, 2013;

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456W748S5
A467T2
Focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory–motor axonal neuropathy, and impairment of visual perception and cognitive function.
-cerebellar ataxia
-movement disorder (ataxia)
-demyelinating neuropathy
-headache/ migraine
juvenile
1516n/aRoshal et al, 2011;

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555W748S5
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy.
-epilepsy
-movement disorder (ataxia)
-stroke
juvenile
14n/a23Tzoulis et al, 2014;

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556W748S5
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy.
-epilepsy
-movement disorder (ataxia)
-stroke
juvenile
13n/a21Tzoulis et al, 2014;

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674W748S5
E1143G
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: 13
Avg age of onset in displayed cases: 16.4
Std dev in onset in displayed cases: 1.9

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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