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11 patient data entries collated from reference Hunter et al, 2011.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
316G848S1
W748S5
Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-Alpers syndrome
-encephalopathy
infantile
n/a26.33
317G848S1
W748S5
Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, Alpers
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-Alpers syndrome
-encephalopathy
childhood
n/a66.75
318G848S1
A467T2
Myoclonic Seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-Alpers syndrome
-encephalopathy
infantile
n/a0.53.33
319G848S1
A467T2
Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Developmental Delay or Regression, hypotonia, tremor, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, death by liver failure, Alpers
-myoclonic seizures
-liver failure
-hypotonic
-developmental delay
-Alpers syndrome
-tremor
-encephalopathy
-epilepsy
infantile
n/a0.830.92
320A467T2
A467T2
Myoclonic Seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, Abnormal Liver Enzymes, Alpers
-myoclonic seizures
-epilepsia partialis
-developmental delay
-Alpers syndrome
-encephalopathy
childhood
n/a510.83
321R852C1
A467T2
Myoclonic Seizures, visual disturbance, motor paresis, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Serum Lactate, liver mtDNA depletion, Alpers
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-Alpers syndrome
-encephalopathy
infantile
n/a1.335.08
322S305R3
A467T2
Myoclonic Seizures, Focal motor seizures, Developmental Delay or Regression, visual disturbance, Multi-organ failure, pancreatitis Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers
-myoclonic seizures
-developmental delay
-pancreatitis
-Alpers syndrome
-encephalopathy
-epilepsy
childhood
n/a33.67
323L966R1
A467T2
Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, visual disturbance, Abnormal Liver Enzymes, liver mtDNA depletion, Alpers
-epilepsia partialis
-developmental delay
-Alpers syndrome
-encephalopathy
infantile
n/a0.751.75
324L966R1
A467T2
Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, motor paresis, tremor Abnormal Liver Enzymes, Alpers
-epilepsia partialis
-developmental delay
-Alpers syndrome
-tremor
-encephalopathy
infantile
n/a1.421.58
325R232H4
H277L3
A467T2
Developmental Delay or Regression, motor paresis, hypotonia, vomiting, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, clinical diagnosis of infantile hepatopathy
-hypotonic
-developmental delay
-vomiting
infantile
n/a0.170.25
326R232H4
H277L3
A467T2
Developmental Delay or Regression, hypotonia, vomiting, Abnormal Liver Enzymes, liver mtDNA depletion, clinical diagnosis of infantile hepatopathy
-hypotonic
-developmental delay
-vomiting
infantile
n/a0.1250.25

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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