|
24 patient data entries in database for mutations G848S and A467T. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 111 | G848S1
| A467T2
| Onset at 6 months with FTT, dementia, hypotonia, seizures, hepatopathy, aplasia cutis, delayed myelinisation. Death at 15 months. | | | 0.5 | n/a | 1.3 | de Vries et al, 2007; [view data] | | 112 | G848S1
| A467T2
| Alpers, seizures, developmental delay, liver failure, hypotonia, impaired vision, renal stones, mtDNA depletion in muscle. 5% COX deficient fibers. | | | 0.7 | n/a | n/a | Stewart et al, 2009; [view data] | | 259 | A467T2
| G848S1
| Refractory seizures, psychomotor regression, liver disease, presented with liver failure | | | 1 | n/a | 1.3 | Nguyen et al, 2005; [view data] | | 260 | A467T2
| G848S1
| Refractory seizures, psychomotor regression, liver disease, Transient hypoglycemia, Transient lactic academia, Elevated CSF protein, presented with epilepsia partialis continua, | | | 0.9 | n/a | 1.8 | Nguyen et al, 2005; [view data] | | 311 | G848S1
| A467T2
| Cyclic vomiting, episodic hypoglycemia then seizure onset at 6 years, generalized seizures, GI dysmotility, eyelid ptosis,ophthalmoplegia, sensorineural hearning loss, absent smooth pursuit eye movements | | | 6 | 11 | n/a | Saneto et al, 2010; [view data] | | 318 | G848S1
| A467T2
| Myoclonic Seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers | | - | movement disorder (ataxia) | |
| | 0.5 | n/a | 3.33 | Hunter et al, 2011; [view data] | | 319 | G848S1
| 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 | | | 0.83 | n/a | 0.92 | Hunter et al, 2011; [view data] | | 328 | G848S1
| A467T2
| focal seizures, elevated liver transaminases, Elevated CSF protein, patient died several weeks later | | | 0.8 | n/a | 1 | McCoy et al, 2011; [view data] | | 345 | G848S1
| A467T2
| presented with hypoglycemia, lactic acidosis, moderate ketosis and liver dysfunction, generalized hypotonia, progressive jaundice and abdominal distension with ascites, status epilepticus with generalized tonico-clonic seizures. She had an intermittent tremor, moderate truncal ataxia with a wide-based gait, myoclonic seizures, epilepsia partialis continua, | | - | movement disorder (ataxia) | |
| | 0.29 | n/a | 5 | Scalais et al, 2012; [view data] | | 408 | G848S1
| A467T2
| Delayed motor and mental development, From the age of 3 years his psychomotor development declined and epilepsy, visual impairment and sensorineuronal deafness, epilepsia partialis continua. Bilateral ptosis, generalized hypotonia, ataxia, absent reflexes and hyperlaxity by age 5. | | - | movement disorder (ataxia) | |
| | 3 | 5 | n/a | de Vries et al, 2008; [view data] | | 447 | G848S1
| A467T2
| Alpers, status epilepticus and somnolence, ataxia with dysmetria and muscular hypotonia. Healthy unrelated parents. Laboratory investigations revealed myoclonic epilepsy with ragged red fibers, | | - | movement disorder (ataxia) | |
| | 2.2 | 3.5 | 5.5 | Hasselmann et al, 2010; [view data] | | 470 | G848S1
| A467T2
| Epilepsy, stroke-like episodes. | | | 0.6 | n/a | 0.6 | Tzoulis et al, 2013; [view data] | | 521 | G848S1
| A467T2
| Alpers, Epilepsy, developmental delay, COX deficient fibres. | | | 1 | n/a | n/a | Stewart et al, 2009; [view data] | | 529 | G848S1
| A467T2
| mtDNA depletion. severe hypoglycemia, liver biopsy shows micronodular cirrhosis. At 3 y 9 m, status epilepticus develops which occurs again at 4 y and is difficult to control. myoclonia. She dies from bronchopulmonary infection when 5 y old. COX negative fibers. | | | 0.25 | 4 | 5 | Roels et al, 2009; [view data] | | 542 | G848S1
| A467T2
| Ragged Red Fibers, COX-Deficient Fibers. The boy had feeding difficulties with failure to thrive since 3 months of age. Delayed motor development. general muscle weakness and ataxia. compromised liver function. | | - | movement disorder (ataxia) | |
| | 0.33 | n/a | 1.33 | Kollberg et al, 2006; [view data] | | 559 | G848S1
| A467T2
| Epilepsy, stroke-like episode. | | | 0.6 | n/a | 0.6 | Tzoulis et al, 2014; [view data] | | 629 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Ataxia | | - | movement disorder (ataxia) | |
| | 2 | n/a | n/a | Wong et al, 2008; [view data] | | 630 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Lactic acidosis, Stroke | | | 2 | n/a | n/a | Wong et al, 2008; [view data] | | 631 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Lactic acidosis, Cortical athrophy, hypoglycemia | | | 1.5 | n/a | n/a | Wong et al, 2008; [view data] | | 632 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Stroke, ataxia, exercise intolerance | | - | movement disorder (ataxia) | |
| | 9 | n/a | n/a | Wong et al, 2008; [view data] | | 633 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, hypotonia, failure to thrive | | | 0.8 | n/a | n/a | Wong et al, 2008; [view data] | | 634 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers | | | 2 | n/a | n/a | Wong et al, 2008; [view data] | | 689 | G848S1
| A467T2
| Hepatopathy, Epilepsy, Hepatopathy, | | | 1.5 | n/a | n/a | Ashley et al, 2008; [view data] | | 702 | G848S1
| A467T2
| He developed normally in the first 6 months. Refusal of food and failure to thrive were noted from the 7th month of life. At 1 year of age, increased transaminase levels in the blood were accompanied by liver enlargement and hyperecogenicity. Motor development was delayed. hypoglycaemic episodes and lactic acidosis. A liver biopsy at the age of 16 months revealed steatosis and fibrosis. At 20 months of age, he had numerous episodes of status epilepticus and epilepsia partialis continua. The patient died at 2.5 years of age during an episode of status epilepticus. Alpers’ syndrome. | | | 0.5 | n/a | 2.5 | Ferrari et al, 2005; [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: 24
Avg age of onset in displayed cases: 1.6
Std dev in onset in displayed cases: 2.0
|