. 2021 Dec 24;145(6):1962–1977. doi: 10.1093/brain/awab479

Table 1.

Clinical, neuropathological and variants in the mTOR pathway findings in four FCD type II patients and four controls

ID	Symbols	Age	Sex	Type^a	Site of surgery	Seizure frequency^b	Seizure onset, years	Number of surgeries^c	Engel^d	Variants in the mTOR brain tissue/leucocytes		Variants in the mTOR cortical organoids
ID	Symbols	Age	Sex	Type^a	Site of surgery	Seizure frequency^b	Seizure onset, years	Number of surgeries^c	Engel^d	Mosaic brain^e	Germline^f	Mosaic	Germline
F1	● ○	5	Female	IIb	FrE; TE	60	1	2	III	MTOR; p.Ala1459Pro; 3.98% FrL; 0.403% TL; VUS; heterozygous	Not found	Not found	Not found
F2	▪■□	37	Female	IIb or TSC	FrR; FrR; FrTR	150	10	3	III	Not found	TSC1; p.Trp676Arg; VUS; heterozygous TSC2; p.Arg367Gln; VUS; homozygous	Not found	TSC1; p.Trp676Arg; VUS; heterozygous. TSC2; p.Arg367Gln; VUS; homozygous
F3	▲ △	15	Female	IIa	FrR; FrR	90	9	2	III	Not found	Not found	Not found	Not found
F4	▼ ▽	19	Female	IIb	PR	90	5	1	I	Not found	Not found	Not found	Not found
4C1	◨ ◧	41	Female	Control	–	–	–	–	–	–	–	Not found	Not found
WT83	◑ ◐	32	Male	Control	–	–	–	–	–	–	–	Not found	Not found
121	◆ ◇	14	Female	Control	–	–	–	–	–	–	–	NP	NP
969	◮ ◭	2	Female	Control	–	–	–	–	–	–	–	NP	NP

Fr = frontal; NP = the analysis was not performed; P = parietal; R = right; T = temporal; TSC = tuberous sclerosis complex; VUS = variant of uncertain significance. (–) = not applicable.

^{^a}

Subtype of FCD according to the ILAE.

^{^b}

Monthly seizure frequency before first surgery.

^{^c}

Number of surgical treatments to control seizures.

^{^d}

Classification scale for surgical outcome.

^{^e}

Percentage of mosaic variants found in brain tissue using mTOR pathway panel.

^{^f}

Germline variant in mTOR pathway using whole exome sequencing from genomic DNA.