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Table 1 Patient demographic information for brain specimens

From: MRC1 and LYVE1 expressing macrophages in vascular beds of GNAQ p.R183Q driven capillary malformations in Sturge Weber syndrome

 

Age

Sex

Diagnosis

Mutation

Mutant Allelic frequency (%)

Location of the specimen

Patients with SWS

1

2 years

Female

Sturge-Weber syndrome

GNAQ R183Q

2.96

Lateral temporal lobe

2

4 years

Female

Sturge-Weber syndrome

GNAQ R183Q

4.59

Left lateral temporal lobe

3

14 years

Male

Sturge-Weber syndrome

GNAQ R183Q

0.15

Right temporal lobe

4

4 years

Male

Sturge-Weber syndrome

GNAQ R183Q

2.5

Right posterior lateral temporal tip

Patients without SWS

1

3 months

Female

N.A

N.A

–

Right medial temporal lobe

2

3 years

Male

N.A

N.A

–

Left frontal lobe

Patient with inflamed brain

1

9 days

Female

Multiple cardiac anomalies

N.A

–

Right frontal lobe