. 2023 Mar 13;55(3):628–642. doi: 10.1038/s12276-023-00962-w

Table 1.

Clinical characteristics and genotype of CMs.

Part	Group-1	Group-2	Sample ID	Mutation type	Mutant-allele frequency (WES)	Age (years)	Sex	Location	Size of CMs (mm)
Brain/spinal cord	Ctrl	Ctrl	Ctrl_1	/	/	9	Male	Temporal
			Ctrl_2	/	/	5	Female	Frontal
			Ctrl_3	/	/	30	Female	Temporal
	MAP3K3 mutations	non-PIK3CA mutations	MAP3K3_1	MAP3K3 I441M	3.4%	48	Female	spinal cord (C7)	8.7
			MAP3K3_2	MAP3K3 I441M	8.4%	42	Female	spinal cord (T6)	12
			MAP3K3_3	MAP3K3 I441M	7.5%	44	Female	Pons	13.9
	PIK3CA mutations	with-PIK3CA mutations	PIK3CA_1	PIK3CA C420R	3.60%	29	Male	Pons	18.9
			PIK3CA_2	PIK3CA H1047R	5.10%	5	Female	Frontal	33
			PIK3CA_3	PIK3CA H1047R	1.30%	33	Male	Thalamus	23.1
			PIK3CA_4	PIK3CA H1047R	0.60%	31	Male	Cerebellum	17
			PIK3CA_5	PIK3CA H1047R	2.30%	55	Male	Pons	13.3
	Double somatic mutations		Double somatic_1	CCM1 L558Wfs*4	23.80%	37	Male	Frontal	36.8
			Double somatic_1	PIK3CA E545K	8.80%	37	Male	Frontal	36.8
			Double somatic_2	MAP3K3 I441M	1.20%	30	Female	Temporal	15.5
			Double somatic_2	PIK3CA E545K	1.70%	30	Female	Temporal	15.5
	Germline mutations plus PIK3CA mutations		Germline+PIK3CA_1	CCM1 K654Sfs*21	66.3%	15	Male	Frontal	26
			Germline+PIK3CA_1	PIK3CA E542K	0.4%	15	Male	Frontal	26
			Germline+PIK3CA_2	CCM1 L551Afs*17	55.4%	0 (10 months)	Male	Temporal	31
			Germline+PIK3CA_2	PIK3CA E542K	2.3%	0 (10 months)	Male	Temporal	31