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2 patient data entries collated from reference Mousson de Camaret et al, 2011. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 706 | Nonsense
mutation:
c.3626_3629dupGATA
| A467T2
| Alpers. At 1 year of age, she presented a rightsided clonic status epilepticus resistant to multiple antiepileptic drugs. Carbamazepine worsened myoclonic jerks. A ketogenic diet was well tolerated but was ineffective. At 12 months, dramatic psychomotor regression was observed with poor interaction, major global hypotonia and no eye contact due to cortical blindness. epilepsia partialis continua reinforced by recurrent episodes of tonic clonic seizures. At 16 months of age, liver enlargement was noticed associated with mild cytolysis. The patient died at 27 months of age of respiratory failure. | | | n/a | 0.5 | 2.25 | | 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. | | | n/a | 1.33 | 4.17 |
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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