Additional Disease Briefs
Also known as:
DEE35, EIEE35, ITPA-related encephalopathy, developmental and epileptic encephalopathy 35, epileptic encephalopathy, early infantile, 35, epileptic encephalopathy, early infantile, type 35
Also known as:
ALG13-CDG, CDG Is, CDG syndrome type Is, CDG-Is, CDG1S, DEE36, EIEE36, congenital disorder of glycosylation type 1s, congenital disorder of glycosylation type Is, congenital disorder of glycosylation, type Is, developmental and epileptic encephalopathy 36, epileptic encephalopathy, early infantile, 36
Also known as:
DEE37, EIEE37, FRRS1L early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 37, early infantile epileptic encephalopathy caused by mutation in FRRS1L, epileptic encephalopathy, early infantile, 37, epileptic encephalopathy, early infantile, 37; EIEE37, epileptic encephalopathy, early infantile, type 37
Also known as:
ARV1 early infantile epileptic encephalopathy, DEE38, EIEE38, developmental and epileptic encephalopathy 38, early infantile epileptic encephalopathy caused by mutation in ARV1, epileptic encephalopathy, early infantile, 38, epileptic encephalopathy, early infantile, 38; EIEE38, epileptic encephalopathy, early infantile, type 38
Also known as:
AGC1 deficiency, DEE39, EIEE39, SLC25A12 early infantile epileptic encephalopathy, aspartate-glutamate carrier 1 deficiency, developmental and epileptic encephalopathy 39, early infantile epileptic encephalopathy caused by mutation in SLC25A12, epileptic encephalopathy with global cerebral demyelination, epileptic encephalopathy, early infantile, 39, hypomyelination, global cerebral, mitochondrial aspartate-glutamate carrier 1 deficiency
Also known as:
DEE4, EIEE4, STXBP1 early infantile epileptic encephalopathy, STXBP1-related early-onset encephalopathy, STXBP1-related encephalopathy, developmental and epileptic encephalopathy 4, developmental and epileptic encephalopathy, 4, early infantile epileptic encephalopathy 4, early infantile epileptic encephalopathy caused by mutation in STXBP1, epileptic encephalopathy, early infantile, 4, epileptic encephalopathy, early infantile, type 4
Also known as:
DEE40, EIEE40, GUF1 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 40, early infantile epileptic encephalopathy caused by mutation in GUF1, epileptic encephalopathy, early infantile, 40, epileptic encephalopathy, early infantile, 40; EIEE40, epileptic encephalopathy, early infantile, type 40
Also known as:
DEE41, EIEE41, SLC1A2 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 41, developmental and epileptic encephalopathy, 41, early infantile epileptic encephalopathy caused by mutation in SLC1A2, epileptic encephalopathy, early infantile, 41, epileptic encephalopathy, early infantile, 41; EIEE41, epileptic encephalopathy, early infantile, type 41
Also known as:
CACNA1A early infantile epileptic encephalopathy, DEE42, EIEE42, developmental and epileptic encephalopathy 42, early infantile epileptic encephalopathy caused by mutation in CACNA1A, epileptic encephalopathy, early infantile, 42, epileptic encephalopathy, early infantile, 42; EIEE42, epileptic encephalopathy, early infantile, type 42
Also known as:
DEE43, EIEE43, GABRB3 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 43, early infantile epileptic encephalopathy caused by mutation in GABRB3, epileptic encephalopathy, early infantile, 43, epileptic encephalopathy, early infantile, 43; EIEE43, epileptic encephalopathy, early infantile, type 43