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21 patient data entries in database for clusters W748S and 1 in age group "infantile". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 255 | E1143G
W748S5
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, microvesicular steatosis, fibrosis | | | 0.3 | n/a | 1 | Davidzon et al, 2005; [view data] | | 687 | T914P1
| W748S5
| mtDNA depletion in muscle, Epilepsy, hepatopathy, movement disorder | | - | movement disorder (ataxia) | |
| | 1.1 | n/a | n/a | Ashley et al, 2008; [view data] | | 652 | R869X1
| W748S5
| Alpers syndrome. At the age of 12 months, he became progressively ataxic and recurrent convulsions appeared, developing quickly to severe epileptic encephalopathy. Fulminant liver failure. Severe mitochondrial depletion found in the liver tissue on autopsy. | | | 1 | n/a | 2.5 | Kaliszewska et al, 2015; [view data] | | 543 | W748S5
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. | | - | movement disorder (ataxia) | |
| | 0.417 | n/a | n/a | Kollberg et al, 2006; [view data] | | 520 | W748S5
E1143G
| G11D
R852C1
| Alpers, Seizures, Epilepsia partialis continua, liver failure, stroke-like episode. | | | 1.33 | n/a | n/a | Stewart et al, 2009; [view data] | | 349 | G11D
R852C1
| E1143G
W748S5
| PEO, alpers disease, ataxia, seizure, hypotonia, developemental delay, | | - | movement disorder (ataxia) | |
| | 0.001 | n/a | n/a | Vasta et al, 2012; [view data] | | 316 | G848S1
| 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 | | - | movement disorder (ataxia) | |
| | 2 | n/a | 6.33 | Hunter et al, 2011; [view data] | | 312 | G848S1
| W748S5
| seizure onset at 2 years, complex partial seizure and epilepsia partialis continua myoclonus, Truncal ataxia, intention tremor | | - | movement disorder (ataxia) | |
| | 2 | 4 | n/a | Saneto et al, 2010; [view data] | | 287 | G848S1
| W748S5
| Developemental delay, status epilepticus onset at 6 years 7 months, valproic acid therapy 6 weeks, liver failure with transplant, epilepsia partialis continua, elevated CSF lactate, elevated CSF protein, mtDNA depletion in liver | | | 6.6 | 7.8 | n/a | Wolf et al, 2009; [view data] | | 286 | W748S5
| R852C1
G11D
| Developmental retardation, Hypotonia, ataxia, seizures myoclonus, abnormal eye movement, gastrointestinal problems, hepatic involvement | | - | movement disorder (ataxia) | |
| | 0.3 | n/a | 1.1 | Naess et al, 2009; [view data] | | 257 | W748S5
E1143G
| G848S1
| Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic acidemia | | | 1 | n/a | 1.7 | Nguyen et al, 2005; [view data] | | 160 | T914P1
| E1143G
W748S5
| developmental delay, vomiting, partial status epilepticus, epilepsia partialis continua, myoclonus, ataxia, alive at age 3. | | - | movement disorder (ataxia) | |
| | 2.5 | 3 | n/a | Isohanni et al, 2011; [view data] | | 253 | W748S5
E1143G
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis, | | | 1 | n/a | 6.5 | Davidzon et al, 2005; [view data] | | 252 | W748S5
E1143G
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion | | | 0.7 | n/a | 2.5 | Davidzon et al, 2005; [view data] | | 237 | W748S5
E1143G
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis. | | | 0.1 | n/a | 0.9 | Davidzon et al, 2005; [view data] | | 187 | W748S5
| R852C1
G11D
| reported as Alpers, onset at 1 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 32% mtDNA copy number in liver. | | - | movement disorder (ataxia) | |
| | 1 | n/a | n/a | Ashley et al, 2008; [view data] | | 172 | G888D1
| W748S5
| Seizures, ptosis, hepatic failure, ketosis, lactic acidosis, organic aciduria/tiglyglycine, elevated pyruvate, microcephaly, abnormal MRI. 33% mtDNA copy number in muscle, 46% mtDNA copy number in blood, ETC low. | | | n/a | 2 | n/a | Tang et al, 2011; [view data] | | 170 | G848S1
| W748S5
E1143G
| Partial status epilepticus, epilepsia partialis, continua, hemiparesis, myoclonus, loss of vision, optical atrophy, pschomotor regression, liver dysfunction, death via pneumonia. | | | 1 | n/a | 11 | Isohanni et al, 2011; [view data] | | 167 | H1110Y1
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. | | | 0.1 | n/a | 0.8 | Taanman et al, 2009; [view data] | | 164 | D930N1
| W748S5
| Onset of Alpers at 3 months, death at 19 months. Bilateral lesions of thalami. | | - | bilateral lesions of thalami | |
| | 0.3 | n/a | 1.5 | Spinazzola et al, 2009; [view data] | | 161 | T914P1
| W748S5
| Age 0.8, developmental delay, hypotonia, myoclinic seizures, spasticity, dystonia, exercise intolerance, GI reflux, abnormal EEG, elevated transaminases, increased signal basal ganglia, abnormal MRI, lactic acidosis, high CSF lactate. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] |
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: 21
Avg age of onset in displayed cases: 1.2
Std dev in onset in displayed cases: 1.4
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