about
P2293
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsyFamilial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance.Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.Familial infantile myoclonic epilepsy in a family suffering from tuberous sclerosis.
P921
description
human disease
@en
name
familial infantile myoclonic epilepsy
@en
type
label
familial infantile myoclonic epilepsy
@en
altLabel
Eim
@en
FIME
@en
Familial infantile myoclonus epilepsy
@en
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE
@en
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME
@en
prefLabel
familial infantile myoclonic epilepsy
@en
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P5270
MONDO:0011506