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FLASH GENE

Symbol

GRIA4

contributors: mct - updated : 24-01-2018

HGNC name	glutamate receptor, ionotrophic, AMPA 4
HGNC id	4574

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

NEDSGA

Susceptibility

to intellectual disability with or without seizures and gait abnormalities

Variant & Polymorphism other	de novo, heterozygous pathogenic variants in GRIA4 are causative for ID with or without seizures and gait abnormalities

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Gria4 deficient mice provide a model of Absence epilepsy (AE)
	GluR4 knockout mice showed mildly improved spatial working memory in the T-maze test