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88 patient data entries in database for mutations E1143G,W748S.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
62W748S5
E1143G
L304R3
SCAE, age of onset 20, death at 27, ptosis and multiple deletions in muscle.
-ptosis
adult
20n/a27Naimi et al, 2006;

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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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159R807C3
W748S5
E1143G
epilepsy, vomiting, lowered consciousness, partial status epilepticus, epilepsia partialis continua, myoclonus, pschomotor regression, liver failure before valproate treatment, death via pneumonia. 72-76% mtDNA copy number in muscle.
-status epilepticus
-myoclonic seizures
-epilepsy
-epilepsia partialis
-liver failure
-pschomotor regression
-lowered consciousness
-vomiting
infantile
1n/a3Isohanni et al, 2011;

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160T914P1
W748S5
E1143G
developmental delay, vomiting, partial status epilepticus, epilepsia partialis continua, myoclonus, ataxia, alive at age 3.
-status epilepticus
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-vomiting
infantile
2.53n/aIsohanni et al, 2011;

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167H1110Y1
Q1236H
W748S5
E1143G
Hypotonia at 8 weeks, seizures, hepatopathy, lactic acidemia, died of liver failure. 9% mtDNA copy number in muscle, 11% mtDNA copy number in liver.
-lactic acidosis
-liver failure
-hypotonic
infantile
0.1n/a0.8Taanman et al, 2009;

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168W748S5
E1143G
W748S5
E1143G
Onset 33 years with neuropathy, myopathy, SANDO, lactic acidosis, PEO.
-lactic acidosis
-myopathy
-PEO
adult
33n/an/aWong et al, 2008;

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169G848S1
W748S5
E1143G
Onset at 6.5 years with alpers syndrome and death at 7.8 years. 23% mtDNA copy number in liver.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
6.5n/a7.8Taanman et al, 2009;

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170G848S1
W748S5
E1143G
Partial status epilepticus, epilepsia partialis, continua, hemiparesis, myoclonus, loss of vision, optical atrophy, pschomotor regression, liver dysfunction, death via pneumonia.
-status epilepticus
-myoclonic seizures
-hemiparesis
-epilepsia partialis
-liver dysfunction
-pschomotor regression
infantile
1n/a11Isohanni et al, 2011;

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176L752P2
W748S5
E1143G
Epilepsy, seizures, VPA induced liver failure.
-epilepsy
-liver failure
childhood
7n/a10Zsurka et al, 2008;

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229W748S5
E1143G
R232H4
Alpers, age of onset 6 months, age of death 13 months. 41% mtDNA copy number. During the first 6 months of life, he was considered healthy, but was irritable with colic-like symptoms. failure to thrive, delayed motor development. myoclonus. leftsided hemiparesis.
-myoclonic seizures
-hemiparesis
-failure to thrive
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.5n/a1.08Kollberg et al, 2006;

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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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237W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis.
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
0.1n/a0.9Davidzon et al, 2005;

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252W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
0.7n/a2.5Davidzon et al, 2005;

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253W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis,
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
1n/a6.5Davidzon et al, 2005;

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255W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, microvesicular steatosis, fibrosis
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
0.3n/a1Davidzon et al, 2005;

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257W748S5
E1143G
G848S1
Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic acidemia
-lactic acidosis
-status epilepticus
-intractable seizure
-liver dysfunction
-hypoglycemia
infantile
1n/a1.7Nguyen et al, 2005;

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278W748S5
E1143G
W748S5
E1143G
Stiffness, cramping of the lower extremities, foot numbness, and poor balance. The past medical history was significant for hypogonadotropic hypogonadism diagnosed 10 years prior. ophthalmoplegia without ptosis, mild lower proximal weakness, Multiple mtDNA deletions detected by PCR in muscle
-ptosis
-ophthalmoplegia
-proximal weakness
adult
3233n/aMilone et al, 2011;

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279W748S5
E1143G
W748S5
E1143G
progressive unsteadiness,limb paresthesias, dysarthria, dysphagia, and weakness, ophthalmoparesis,dysarthria, palatal tremor, moderate axial and appendicular ataxia, and distal pan-modality sensory loss
-movement disorder (ataxia)
-PEO
-dysphagia
-dysarthria
-tremor
adult
3233n/aMilone et al, 2011;

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298W748S5
E1143G
R722H
mental retardation, psychiatric symptoms, mild bilateral ptosis and epilepsy, Seizures occurred at age 11 years, and focal generalized epilepsy was diagnosed.
-epilepsy
-ptosis
-retardation
childhood
1122n/aKomulainen et al, 2010;

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349R852C1
G11D
W748S5
E1143G
PEO, alpers disease, ataxia, seizure, hypotonia, developemental delay,
-movement disorder (ataxia)
-PEO
-hypotonic
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.001n/an/aVasta et al, 2012;

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365W748S5
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
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-dysphagia
-dysarthria
-nystagmus
juvenile
1637n/aHakonen et al, 2005;

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366W748S5
E1143G
W748S5
E1143G
Onset with headaches, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, restricted eye movements, ptosis, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-ptosis
-headache/ migraine
-dysphagia
-dysarthria
-nystagmus
adult
2851n/aHakonen et al, 2005;

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367W748S5
E1143G
W748S5
E1143G
Onset with tremor, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, eye muscle weakness, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased.
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-muscle weakness
-dysarthria
-tremor
childhood
5n/a35Hakonen et al, 2005;

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368W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances, Gait and limb ataxia, Dysarthria, Dysphagia, Nystagmus, diplopia, Cognitive impairment, Muscle strength decreased, sensory neural hearing deficit, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-diplopia
-dysphagia
-dysarthria
-nystagmus
adult
3246n/aHakonen et al, 2005;

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369W748S5
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
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
-nystagmus
juvenile
1944n/aHakonen et al, 2005;

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370W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances, Gait and limb ataxia, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Psychiatric symptoms, premature menopause, Obesity, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
-nystagmus
adult
2742n/aHakonen et al, 2005;

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371W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances and neuropathy, Gait and limb ataxia, tremor, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, restricted eye movements, Psychiatric symptoms, Muscle strength decreased, Obesity, muscle cramps, amyotrophy, pes cavus, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
-nystagmus
-tremor
adult
2738n/aHakonen et al, 2005;

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372W748S5
E1143G
W748S5
E1143G
Onset with neuropathy, Gait and limb ataxia, Dysarthria, Dysphagia, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
adult
4158n/aHakonen et al, 2005;

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373W748S5
E1143G
W748S5
E1143G
Onset with neuropathy, Gait and limb ataxia, tremor, Dysarthria, Nystagmus, Psychiatric symptoms, Muscle strength decreased, amyotrophy, pes cavus, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-dysarthria
-nystagmus
-tremor
adult
3651n/aHakonen et al, 2005;

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374W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances and neuropathy, Gait and limb ataxia, Dysarthria, restricted eye movements, ptosis, Cognitive impairment, Obesity, cramps, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-ptosis
-dysarthria
adult
3844n/aHakonen et al, 2005;

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375W748S5
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
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-dysarthria
-nystagmus
-tremor
juvenile
1745n/aHakonen et al, 2005;

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376W748S5
E1143G
W748S5
E1143G
Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, Dysarthria, other eye-movement abnormalities, Nystagmus, Cognitive impairment, Psychiatric symptoms, cramps, sensory motor polyneuropathy
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-polyneuropathy
-dysarthria
-nystagmus
-tremor
adult
2345n/aHakonen et al, 2005;

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377W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances and neuropathy, Gait and limb ataxia, Myoclonus, tremor, Dysarthria, restricted eye movements, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
-myoclonic seizures
-movement disorder (ataxia)
-polyneuropathy
-dysarthria
-tremor
adult
3851n/aHakonen et al, 2005;

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378W748S5
E1143G
W748S5
E1143G
Onset with epilepsy, Gait and limb ataxia, Epilepsy, Dysarthria, Nystagmus, diplopia, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
-epilepsy
-movement disorder (ataxia)
-polyneuropathy
-diplopia
-dysarthria
-nystagmus
adult
2455n/aHakonen et al, 2005;

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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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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
8n/a9Tzoulis et al, 2006;

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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
8n/a9Tzoulis et al, 2006;

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392W748S5
E1143G
W748S5
E1143G
Presented with epilepsy, status epilepticus, nystagmus, neuropathy
-status epilepticus
-epilepsy
-nystagmus
juvenile
1718n/aTzoulis et al, 2006;

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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
4n/a30Tzoulis et al, 2006;

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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
10n/a22Tzoulis et al, 2006;

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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
15n/a57Tzoulis et al, 2006;

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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
1238n/aTzoulis et al, 2006;

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397W748S5
E1143G
W748S5
E1143G
Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-headache/ migraine
juvenile
1819n/aTzoulis et al, 2006;

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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
1727n/aTzoulis et al, 2006;

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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
1738n/aTzoulis et al, 2006;

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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
1933n/aTzoulis et al, 2006;

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401W748S5
E1143G
Presented with epilepsy, ataxia, nystagmus, neuropathy, ptosis/ PEO onset at age 65
-epilepsy
-movement disorder (ataxia)
-ptosis
-PEO
-nystagmus
adult
5574n/aTzoulis et al, 2006;

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404W748S5
E1143G
Onset with walking difficulties, seizures at 2.5 years, hepatocellular insufficiency after valproate treatment, alpers syndrome, Liver mtDNA depletion.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
2n/a3Sarzi et al, 2007;

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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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414W748S5
E1143G
W748S5
E1143G
patient noticed gait and balance difficulties at age 46 years, ataxia, CPEO, cortical and cerebellar atrophy, axonal sensory polyneuropathy, Symmetrical bradykinesia and rigidity, mild tremor, paranoid delusions, During the last 2 years of life he had marked rigidity, dysphagia, myoclonic jerks and dystonia
-movement disorder (ataxia)
-cerebellar atrophy
-polyneuropathy
-PEO
-dysphagia
-dystonia
-tremor
adult
4665n/aRemes et al, 2008;

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415W748S5
E1143G
W748S5
E1143G
Headache, visual symptoms, migraine-like headache, Athetosis, nystagmus, emiparesis, valproic acid induced Liver failure, sepsis, pancreatitis, status epilepticus
-status epilepticus
-liver failure
-headache/ migraine
-pancreatitis
-nystagmus
juvenile
1415n/aUusimaa et al, 2008;

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416W748S5
E1143G
W748S5
E1143G
Seizures, status epilepticus, visual symptoms, nystagmus, valproic acid induced liver failure
-status epilepticus
-liver failure
-nystagmus
juvenile
1721n/aUusimaa et al, 2008;

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417W748S5
E1143G
W748S5
E1143G
Migraine like headaches, visual symptoms, focal generalized seizures, severe liver failure, valproate induced liver failure
-liver failure
-headache/ migraine
juvenile
15n/a20Uusimaa et al, 2008;

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420W748S5
E1143G
A143V1
Peripheral neuropathy, PEO, ataxia, hearing loss, dysarthria-dysphonia, urinary tract involvement
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-dysarthria
-hearing loss
adult
4049n/aAmiot et al, 2009;

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452W748S5
E1143G
W748S5
E1143G
developed gait disturbance by the age of 35, progressing to increasing clumsiness in lower extremities, dysarthria, diplopia, and occasional amnesia at the age of 44. She developed ataxia, slight polyneuropathy, and external ophthalmoplegia. At the age of 46 she had slightly increased plasma creatine kinase levels and symmetrical cerebellar peduncular white matter signal intensity increase in brain MRI. The first epileptic seizure, requiring treatment by general anesthesia, oc- curred at the age of 55, after which she was hospitalized permanently. From her 30's, she received psychiatric care due to anxiety and depression. A neuropsychological examination revealed decrease in visual reasoning and memory functions. She deceased at the age of 56 due to pneumonia and pulmonary embolism.
-movement disorder (ataxia)
-polyneuropathy
-ophthalmoplegia
-diplopia
-external ophthalmoplegia
-dysarthria
adult
35n/a56Palin et al, 2012;

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453W748S5
E1143G
No neurological symptoms, but type-2 diabetes and hypertension.
-no known symptoms
adult
n/a63n/aPalin et al, 2012;

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454W748S5
E1143G
W748S5
E1143G
Gait disturbance since childhood. Early onset suggested anticipation. In his 20's he developed photophobia and general clumsiness and benign paroxysmal positional vertigo. From the age of 37 he has had unspecific sensory polyneuropathy, confirmed by electromyography. He had several simple partial seizures at the age of 39, and has mild anxiety and depression.
-movement disorder (ataxia)
-polyneuropathy
childhood
541n/aPalin et al, 2012;

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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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457R852C1
W748S5
Q497H2
E1143G
Alpers/ Alpers–Huttenlocher.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/an/aSofou et al, 2013;

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478G848S1
Q497H2
W748S5
E1143G
The index patient presented at the age of 8 months with microcephaly, seizures, and developmental delay. From the time of the first observation she rapidly developed epilepsia partialis continua, multifocal myoclonic jerks, and progressive psychomotor retardation. MRI performed at 8 months was generally unremarkable. By 9 months of age the brain MRI showed signifi cant changes including a diffuse severe cerebral and cerebellar atrophy involving gray and white matter.
-epilepsia partialis
-cerebellar atrophy
-developmental delay
-retardation
-microcephaly
infantile
n/a0.61Brunetti-Pierri et al, 2008;

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479G848S1
Q497H2
W748S5
E1143G
He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed.
-intractable seizure
-epilepsia partialis
-encephalopathy
infantile
0.51.25n/aBrunetti-Pierri et al, 2008;

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480G848S1
Q497H2
W748S5
E1143G
He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed.
-intractable seizure
-epilepsia partialis
-encephalopathy
infantile
0.51.25n/aBrunetti-Pierri et al, 2008;

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520W748S5
E1143G
G11D
R852C1
Alpers, Seizures, Epilepsia partialis continua, liver failure, stroke-like episode.
-epilepsia partialis
-stroke
-liver failure
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
1.33n/an/aStewart et al, 2009;

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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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543W748S5
E1143G
E1163G1
Ragged Red Fibers, COX-Deficient Fibers. mtDNA depletion. He was healthy and his development was normal until 5 months of age. He developed failure to thrive and muscular hypotonia. At 4 years of age, he developed myoclonus, which was first limited to the right eye and the right side of the mouth, but then progressed to epilepsia partialis continua of the entire left side of the body without loss of consciousness. He has developed a complex movement disorder and cognitive impairment, but contact, speech, and memory functions have been retained. He also had ptosis and uncontrolled and uncoordinated movements, especially in his arms.
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-ragged red fibers
-ptosis
-failure to thrive
-hypotonic
infantile
0.417n/an/aKollberg et al, 2006;

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585R993C
W748S5
E1143G
late-onset parkinsons. Tremor. Cardiac arrhythmia.
-parkinson's disease
-arrhythmia
-tremor
adult
72n/an/aYlönen et al, 2013;

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593W748S5
Q497H2
E1143G
W748S5
Q497H2
E1143G
Ataxia, sensory ataxia, dysarthria, nystagmus, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. This man presented at age 26 with unsteadiness. Examination showed an ataxic gait, cerebellar dysarthria, myoclonic jerks of his head and facial muscles, mild limitation of horizontal eye movement, and horizontal nystagmus in the direction of gaze, with an additional vertical element when looking down. There were distal amyotrophy, absent reflexes in the legs, and a symmetric loss of all sensory modalities below the knee. Romberg’s test was positive. Episodes of depression. At age 31 he has an almost complete ophthalmoplegia, cerebellar dysarthria, myoclonus involving face and arms, truncal ataxia, and symmetric dysmetria.
-myoclonic seizures
-movement disorder (ataxia)
-sensory ataxia
-demyelinating neuropathy
-ophthalmoplegia
-dysarthria
-nystagmus
adult
2338n/aWinterthun et al, 2005;

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594W748S5
Q497H2
E1143G
W748S5
Q497H2
E1143G
Headaches, a focal epilepsy with secondary generalisation, occipital epilepsy, dysarthria, nystagmus, cognitive dysfunction. Demyelinating neuropathy, axonal neuropathy. headaches preceded by visual symptoms, nausea, vomiting, and unsteadiness diagnosed as migraine. Shortly after, she had the first of a series of tonic-clonic seizures preceded by headache. Examination showed horizontal and vertical nystagmus, gait ataxia.
-epilepsy
-movement disorder (ataxia)
-demyelinating neuropathy
-headache/ migraine
-vomiting
-dysarthria
-nystagmus
juvenile
1518n/aWinterthun et al, 2005;

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610Frameshift:
nt2842_2843insAI948fsX968
W748S5
E1143G
Myoclonus, epilepsy, Psychomotor retardation, Alpers syndrome, steatosis
-myoclonic seizures
-epilepsy
-retardation
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
0.25n/an/aSarzi et al, 2007;

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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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617W748S5
E1143G
W748S5
E1143G
plurimetabolic syndrome. At age 30 years, he noted disturbed balance, and ataxia and severe axonal neuropathy were diagnosed. On examination at age 32 years, he had slowed ocular pursuit movements but with full range of motion. He had severe gait ataxia, imbalance, and trunk ataxia, as well as clumsiness of the hands. Achilles tendon reflexes were absent. dysarthria, obesity, chronic motor axonopathy, moderate sensory neuropathy at the upper limbs, mild neurogenic atrophy.
-movement disorder (ataxia)
-demyelinating neuropathy
-dysarthria
adult
3033n/aVan Goethem et al, 2004;

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626Splice site
mutation:
C.2480+1G>A
W748S5
E1143G
Muscle weakness, respiratory failure, Alpers, Lactic acidosis, Seizures, Demential , developmental delay
-lactic acidosis
-muscle weakness
-developmental delay
-dementia
-respiratory deficiency
-Alpers syndrome
-encephalopathy
-epilepsy
childhood
4n/an/aWong et al, 2008;

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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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641G848S1
Q497H2
W748S5
E1143G
developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome.
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
1n/an/aWong et al, 2008;

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672W748S5
E1143G
W748S5
Focal seizures with left visual field symptoms and motor signs. Neurological examination disclosed PEO, dysarthria, decreased reflexes, loss of proprioception distally in the legs, discrete pyramidal signs and appendicular ataxia on the left side with an ataxic gait. Mild cognitive decline was present. infratentorial white matter lesions, axonal polyneuropathy. negative myoclonus.
-myoclonic seizures
-focal seizures
-movement disorder (ataxia)
-polyneuropathy
-axonal sensorimotor polyneuropathy
-PEO
-dysarthria
adult
262833.5Janssen et al, 2016;

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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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698Frameshift:
Y1210fs1216X
W748S5
E1143G
An apparently myogenic torticollis was noticed after a few months of life; at 10 months, he had two episodes of sudden head drop, followed by the onset of psychomotor arrest/ regression, hypotonia, ataxia and focal myoclonus of the right upper limb. In the following weeks, the myoclonus became subcontinuous, and was associated with rapidly progressive, severe generalized hypotonia and weakness requiring ventilatory assistance. Seizures were partially controlled with a combination of topiramate, clobazam and phenylbarbiturate. symmetrical lesions of the basal ganglia, thalami, cerebellar dentate nuclei and left occipital cortical and subcortical regions. abnormal accumulation of lactic acid in the putamen and a reduction of the N-acetyl aspartate. cholestatic jaundice, hypoglycaemia and hypocoagulation. The diagnostic conclusion was Alpers syndrome.
-myoclonic seizures
-movement disorder (ataxia)
-jaundice
-hypotonic
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.2n/a2.5Ferrari et al, 2005;

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699Frameshift:
Y1210fs1216X
W748S5
E1143G
disease-free interval in the first 4 months after birth, followed by persistent vomiting, epileptic crises with loss of eye contact, and myoclonus in the upper limbs with secondary generalization and loss of consciousness. Persistent myoclonus in the upper limbs was associated with profound hypotonia and loss of eye contact. cortical atrophy and leukoencephalopathy in the subcortical areas of the frontal lobes. progressive hepatic failure with enlarged liver, hypoalbuminaemia and predominantly cholestatic jaundice led to the death of the child at 8 months of age.
-myoclonic seizures
-liver failure
-jaundice
-hypotonic
-encephalopathy
-vomiting
infantile
0.3n/a0.67Ferrari et al, 2005;

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700L244P4
W748S5
E1143G
epilepsia partialis continua at 10 months, pyramido-cerebellar syndrome 19 months, myoclonic seizures when 4.5 years old. myoclonic jerks. At the age of 8 years, a brain CT scan showed atrophy of the right occipital cortex. signs and symptoms of liver dysfunction. chronic progressive liver disease. diffuse cortical atrophy. myoclonic epilepsy became resistant to any medication, myoclonic status along with episodes of respiratory failure. His clinical condition rapidly worsened and led to a vegetative state.
-myoclonic seizures
-epilepsy
-epilepsia partialis
-liver dysfunction
-respiratory deficiency
infantile
0.8915Simonati et al, 2003b;

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701L244P4
W748S5
E1143G
myoclonic fits of the right limbs and then a dystonic-ataxic syndrome at the age of 5 months. He had a rapid clinical deterioration. At age 6 months, a brain CT scan showed diffuse cortical atrophy. acute hepatic failure.
-liver failure
infantile
0.42n/a1.1Simonati et al, 2003b;

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707Nonsense
mutation:
c.3643+2T>C
E1143G
W748S5
At 16 months of age, he started a severe status epilepticus. Cerebral MRI showed brain cortical atrophy. he developed intractable epileptic encephalopathy associated with generalized hypotonia and cortical blindness. diffuse hypotonia, lethargy and vomiting. During the two following years, epilepsy was always very active including spasms and myoclonic jerks. progressive hepatic failure. Alpers.
-status epilepticus
-epilepsy
-liver failure
-hypotonic
-encephalopathy
-vomiting
-cortical blindness
-Alpers syndrome
-developmental delay
infantile
1.33n/a4.17Mousson de Camaret et al, 2011

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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: 88
Number of patient cases marked as outliers: 1 (cases excluded from avg: 404)
Avg age of onset in displayed cases: 17.1
Std dev in onset in displayed cases: 15.8

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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