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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
NORTHERN EPILEPSY
610003
OMIM = Online Medalian Inheritance of Men
1947
8p23.3
very rare
autosomal recessive
symptoms
abnormal movement
ataxia
behavior, hyperactive, restless
cerebellar atrophy or hypoplasia
cerebral atrophy
irritability
mental retardation
myoclonus
onset, childhood
seizures
speech development, delayed, abnormal
laboratory finding
EEG abnormalities - ---
Electron microscopy - abnormaltissues
Literature
Sommer A,et al.The molecular basis of aminoacylase 1 deficiency.Biochim Biophys Acta18126685-6902011
Yankol Y,et al.Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases.Exp Clin Transplant002016