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5 patient data entries collated from reference Wolf et al, 2009.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
287G848S1
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
-status epilepticus
-epilepsia partialis
-liver failure
infantile
7.86.6n/a
288G848S1
W748S5
status epilepticus onset epilepsia partialis continua, elevated CSF lactate, elevated CSF protein,
-status epilepticus
-epilepsia partialis
childhood
n/a10.6711.5
289A467T2
A467T2
Developemental delay, status epilepticus onset, valproic acid therapy 2 weeks, epilepsia partialis continua, mtDNA depletion in liver
-status epilepticus
-epilepsia partialis
infantile
62.67n/a
290A467T2
A467T2
status epilepticus onset, valproic acid therapy 12 weeks, liver failure,
-status epilepticus
-liver failure
childhood
119.25n/a
650Splice site
mutation:
novelsplicemutation
W748S5
Alpers. At 7 months she developed focal clonic Status epilepticus. SE subsided slowly after a continuous infusion of valproic acid. she developed severe muscular hypotonia and feeding difficulties necessitating nasogastric feeding. Twelve weeks after disease onset, she was readmitted with vomiting and pneumonia. Infantile scoliosis.
-status epilepticus
-hypotonic
-vomiting
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a0.580.83

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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