Visit Metagene.de!
Summary
EPILEPSY, PROGRESSIVE MYOCLONIC, 8 EPM8
CERAMIDE SYNTHASE 1 DEFICIENCY
616230
OMIM = Online Medalian Inheritance of Men
424027
19p13.11
very rare
autosomal recessive
mutation in the CERS1 gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
cognitive impairment
dementia
mental retardation
myoclonus
onset, adolescent
onset, childhood
seizures
laboratory finding
EEG abnormalities -
no specific laboratory findings (P, S, U ,CSF)
Literature
Allison SJRenal physiology: MAGED2 mutations in transient antenatal Bartter syndromeNat Rev Nephrol1273772016
Carmosino M,et al.NKCC2 activity is inhibited by the Bartters syndrome type 5 gain-of-function CaR-A843E mutant in renal cellsBiol Cell107498-1002015