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Summary
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 EIEE3
609304
OMIM = Online Medalian Inheritance of Men
1934
11p15.5
rare
autosomal recessive
mutation in the SLC25A22 gene
symptoms
cerebral atrophy
early death
encephalopathy
epilepsy
hypertonia, spasticity
hypotonia
microcephaly (<2 SD for age)
onset, infancy
onset, neonatal
seizures
laboratory finding
EEG abnormalities -
MRI, brain, abnormalities -
no specific laboratory findings (P, S, U ,CSF)
Literature
Finlayson S,et al.Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1J Neurol Neurosurg Psychiatry84101119-11252013
Wuerde AE,et al.Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare diseaseMol Genet Metab1054634-6412012
Timal S,et al.Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencingHum Mol Genet21194151-41612012