| Age | Sex | Diagnosis | Mutation | Mutant Allelic frequency (%) | Location of the specimen |
---|---|---|---|---|---|---|
Patients with SWS | ||||||
1 | 2Â years | Female | Sturge-Weber syndrome | GNAQ R183Q | 2.96 | Lateral temporal lobe |
2 | 4Â years | Female | Sturge-Weber syndrome | GNAQÂ R183Q | 4.59 | Left lateral temporal lobe |
3 | 14Â years | Male | Sturge-Weber syndrome | GNAQ R183Q | 0.15 | Right temporal lobe |
4 | 4Â 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 |