Home Query References Browse Contact

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

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
66A467T2
S305R3
Alpers, died at age four. Sister also died at age 4 .
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
n/an/a4Blok et al, 2009;

[view data]

322S305R3
A467T2
Myoclonic Seizures, Focal motor seizures, Developmental Delay or Regression, visual disturbance, Multi-organ failure, pancreatitis Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers
-myoclonic seizures
-developmental delay
-pancreatitis
-Alpers syndrome
-encephalopathy
-epilepsy
childhood
3n/a3.67Hunter 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: 2
Avg age of onset in displayed cases: 3.5
Std dev in onset in displayed cases: 0.5

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
:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: