From: An integrated genetic analysis of epileptogenic brain malformed lesions
ID | Gene | Variant | Method | VAF (%) in validation | Germline/somatic | Reported/novel variant | ||
---|---|---|---|---|---|---|---|---|
Detection | Validation | Blood | Brain | |||||
FCD type IIA | ||||||||
F53 | DEPDC5 | c.982C > T p.(Arg328*) | TS | Sanger | NA | NA | Germline | Reported |
F72 | PIK3CA | c.1035T > A p.(Asn345Lys) | TS | DS | NA | 12.8–16.8 | Somatic | Reported |
FCD type IIB | ||||||||
F04 | TUBB3 | c.520A > G p.(Lys174Glu) | WES | Sanger | NA | NA | Germline | Novel |
F08 | MTOR | c.4339_4353del p.(Ala1447_Glu1451del) | WES | DS | 0 | 1.8 | Somatic | Novel |
F36 | TSC2 | c.2492C > T p.(Thr831Met) | TS | DS | 0.1a | 1.4 | Somatic | Novel |
F38 | NPRL3 | c.629 + 2_3insT | TS | DS | 32.5 | 32.9 | Somatic | Novel |
F40 | MTOR | c.4447T > C p.(Cys1483Arg) | TS | DS | 0 | 0.6 | Somatic | Reported |
F41 | TSC2 | c.5227C > T p.(Arg1743Trp) | TS | DS | 0 | 1 | Somatic | Novel |
F43 | DEPDC5 | 22q11.23q13.33del and 17q12q25.3dup | WES | CMA | 0 | 20–25 | Somatic | Novel |
F43 | DEPDC5 | c.856C > T p.(Arg286*) | TS | DS | 0.1a | 1.8 | Somatic | Reported |
F44 | TSC2 | c.1513C > T p.(Arg505*) | TS | DS | 0 | 1.6 | Somatic | Novel |
F46 | MTOR | c.4376C > A p.(Ala1459Asp) | TS | ddPCR | 0 | 2.56 | Somatic | Reported |
F49 | TSC2 | c.5228G > A p.(Arg1743Gln) | TS | DS | 0.1a | 1.3 | Somatic | Reported |
F50 | MTOR | c.5930C > A p.(Thr1977Lys) | TS | DS | 0 | 2.6 | Somatic | Reported |
F54 | MTOR | c.4379T > C p.(Leu1460Pro) | TS | ddPCR | 0 | 1.84 | Somatic | Reported |
F57 | MTOR | c.6644C > A p.(Ser2215Tyr) | TS | ddPCR | 0 | 3.18 | Somatic | Reported |
F61 | TSC2 | c.4375C > T p.(Arg1459*) | TS | DS | 0 | 0.6 | Somatic | Novel |
F61 | TSC2 | c.4960G > A p.(Gly1654Ser) | TS | Sanger | NA | NA | Germline | Novel |
F64 | MTOR | c.4448G > A p.(Cys1483Tyr) | TS | DS | NA | 4 | Somatic | Reported |
F68 | TSC2 | c.1418_1422del p.(Leu473Hisfs*7) | TS | DS/ASP | 0.03–0.4 | 3.6 | Somatic | Novel |