Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb

Table 3 Previously published FCDII lesions with a positive genetic finding and histopathologically proven using the 2011 ILAE classification scheme

References	# of FCDII^genetic+ of all individuals	FCDIIa^GATOR1+ of all FCD IIa	FCDIIa^MTORC1 of all FCD IIa	FCDIIb^MTORC1 of all FCD IIb	FCDIIb^GATOR1+ of all FCD IIb
Lim et al. [37]	12/12	–	5/12	7/12	–
Nakashima et al. [45]	6/6	–	–	6/6	–
Baulac et al. [4]	2/4	2/2	–	–	–
D’Gama et al. [21]	5/18	2/2	–	2/3	–
Ying et al. [63]	1/10	1/1	–	–	–
Niestroj et al. [47]	4/15	2/3	–	1/1	–
Baldassari et al. [2]	34/43	5/19	10/19	9/15	–
Blümcke et al. [10]	4/22	1/3	1/3	1/1	–
Wang et al. [61]	10/20	–	–	10/10	–
Wang et al. [60]	15/50	15/15	–	–	–
This study	17/17	10/12	2/12	5/5	–
Total	110/217	38/57 (67%)	18/46(39%)	41/53 (77%)	–

# of FCDII^genetic+ of all individuals number of histopathologically confirmed FCDII with a genetic lesion/of all reported individuals, FCDIIa^GATOR1+ FCD ILAE Type IIa with a variant directly affecting the GATOR1 complex, e.g. DEPDC5 or NPRL3/of all reported FCDIIa^genetic+ in that study, FCDIIb^MTORC1 FCD ILAE Type IIb with a variant in MTORC1 activating genes of all reported FCDIIb^genetic+ in that study, FCDIIb^GATOR1+ FCD ILAE Type IIb with a variant in GATOR1 complex of all reported FCDIIb^genetic+ in that study, FCDIIa^MTORC1 FCD ILAE Type IIa with a variant in MTOR complex 1 activating genes of all reported FCDIIa^genetic+ in that study. The publication of Lopez-Rivera et al. [40] was excluded herein as it included same cases used in the present study

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