Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report

BMC Pediatrics

Table 2 The phenotype of patients with developmental regression who carry de novo GRIA2 variant

Patient ID	P3	P4	P12	P16	Current
Variant	p.ASP611Asn	p.Gly609Arg	p.Pro286Leufs*14	p.Val647Leu	p.Ala770Thr
Study	Salpietro et al. 2019	Salpietro et al. 2019	Salpietro et al. 2019	Salpietro et al. 2019	Current
Gender/ Age onset	Early infancy/M	Infancy/F	2y/M	Early infancy/M	4y/F
DD	+	+	+	+	-
ID	+	+	+	+	-
ASD	+	-	+	n/a	+
Speech impairment	+	+	+	+	+
Walk	n/a	Mild dyspraxic gait	n/a	Unable	Normal
Seizures	No	No	No	Focal, tonic–clonic	No
Brain image	Normal	White matter changes	Normal	Mild cerebral atrophy	Normal
Other features	Obsessive- compulsive traits	Ataxic gait, dystonia	Obsessive- compulsive traits	n/a	Obsessive- compulsive traits, self-harm behaviors, psychiatric symptoms

ISSN: 1471-2431