Table 2.

Phenotypes and Distributions of Types of Pathogenic Mutations Detected.

Phenotype	Participants	All	Mutations Germline	Mosaic	Mosaic Mutations Missed by Sanger Sequencing
	no.	no. of participants (%)			no./total no. (%)
Double-cortex syndrome	30	9 (30)	3 (10)	6 (20)	5/6 (83)
Polymicrogyria with megalencephaly	20	2 (10)	2 (10)	0	—
Periventricular nodular heterotopia	61	8 (13)	7 (11)	1 (2)	0/1
Pachygyria	47	8 (17)	7 (15)	1 (2)	0/1
Total	158	27 (17)	19 (12)	8 (5)*	5/8 (63)

^*Mosaic mutations account for 30% of the 27 mutations detected in the study participants.