. Author manuscript; available in PMC: 2015 May 4.

Published in final edited form as: Nat Genet. 2012 Jun 24;44(8):941–945. doi: 10.1038/ng.2329

Table 1.

Clinical and molecular data from individuals with HME carrying mutations in the PI3K-AKT3-mTORpathway

Subject ID	Age at surgery	Sex	Lesion location^a	Brain pathology	Other pathology	Gene	Nucleotide change	Protein change
HME-1565	6 months	F	Left	CD, CN, EN, PMG	–	AKT3	c.49C>T	p.Glu17Lys
HME-1563	5 years	M	Left	CD, CN, EN	Hypomelanosis of Ito	MTOR	c.4448C>T	p.Cys1483Tyr
HME-1573	4 months	M	Left	CD, CN, EN, PMG	–	PIK3CA	c.1633G>A	p.Glu545Lys
HME-1916	4 months	M	Left	CD, CN, EN, PMG	–	PIK3CA	c.1633G>A	p.Glu545Lys
HME-1564	6 months	M	Left	CD, EN, PMG	–	PIK3CA	c.1633G>A	p.Glu545Lys
HME-1855	4 years	M	Right	CD, CN, EN, PMG	Hemihypertrophy of right hand and foot	PIK3CA	c.1633G>A	p.Glu545Lys

M, male; F, female; CD, cortical dyslamination; CN, cytomegalic neuron; EN, ectopic neurons; PMG, polymicrogyria. Results are ordered by gene name and age of the subject at the time of surgery.

Affected cerebral hemisphere.