Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 16-11-2016

Symbol	EIEE46
Location	19q13.33
Name	epileptic encephalopathy, early infantile, 46
Corresponding gene	GRIN2D
Main clinical features	severely delayed global development and onset of intractable seizures in infancy failure to thrive, poor feeding, dysphagia, constipation, mild cortical visual impairment, axial hypotonia, appendicular hypertonia, and minor dysmorphic features EEG showed multifocal spike wave discharges, with hypsarrhythmia
Genetic determination	not applicable
Function/system disorder	neurology
Type	disease

Remark(s)

NMDAR antagonists and magnesium might be useful adjunctive therapy to control seizures in individuals with GRIN2D gain-of-function mutations in pore-forming regions of the receptor