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5 patient data entries in database for mutations E1143G and PNF. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 610 | Frameshift:
nt2842_2843insAI948fsX968
| W748S5
E1143G
| Myoclonus, epilepsy, Psychomotor retardation, Alpers syndrome, steatosis | | | 0.25 | n/a | n/a | Sarzi et al, 2007; [view data] | | 626 | Splice site
mutation:
C.2480+1G>A
| W748S5
E1143G
| Muscle weakness, respiratory failure, Alpers, Lactic acidosis, Seizures, Demential , developmental delay | | | 4 | n/a | n/a | Wong et al, 2008; [view data] | | 698 | Frameshift:
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. | | - | movement disorder (ataxia) | |
| | 0.2 | n/a | 2.5 | Ferrari et al, 2005; [view data] | | 699 | Frameshift:
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. | | | 0.3 | n/a | 0.67 | Ferrari et al, 2005; [view data] | | 707 | Nonsense
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. | | | 1.33 | n/a | 4.17 | Mousson de Camaret 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: 5
Avg age of onset in displayed cases: 1.2
Std dev in onset in displayed cases: 1.5
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