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2 patient data entries in database for clusters 1 and 3 in age group "childhood".

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
Juvenile Alpers, migraines at 12 years, ataxia, peripheral neuropathy, seizures, VPA-induced hepatopathy.
-movement disorder (ataxia)
-peripheral neuropathy
-headache/ migraine
-Alpers syndrome
-developmental delay
12n/a17Wiltshire et al, 2008;

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Onset at 2.5 years with epilepsy, diagnosed as Alpers. Complex IV 33%. showed psychomotor regression around age 2.5 years, and developed repetitive generalized tonic–clonic seizures. Myoclonic jerks.
-Alpers syndrome
-developmental delay
37n/aFerreira et al, 2011;

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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: 2
Avg age of onset in displayed cases: 7.5
Std dev in onset in displayed cases: 4.5

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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