Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 18-11-2013

Symbol	EIEE15
Location	1p34.1
Name	Epileptic encephalopathy, early infantile 15
Corresponding gene	ST3GAL3
Main clinical features	severe early infantile epileptic encephalopathy consistent with West syndrom with infantile spasms, mainly of the flexor type, which were accompanied by hypsarrhythmia on EEG and major mental retardation, unability to speak or walk independently most patients remain mentally retarded and many develop Lennox-Gastaut syndrome
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

mutation affected an essential sialyl-motif and abolished enzymatic activity (PMID: 23252400))