. Author manuscript; available in PMC: 2019 Oct 1.

Published in final edited form as: Mol Cell Neurosci. 2018 Aug 23;92:149–163. doi: 10.1016/j.mcn.2018.08.004

Table 1.

Human subject information.

	Subject	Age	Gender	TSC2 genotype	Mutation site	TSC features
Same family	TSC #1	32	male	4bp deletion causing frame-shift	Nucleotides 4650-4653 (ACAA)	Refractory epilepsy, tubers, low IQ
Same family	CTR #5	30	male	Normal	none	None
Different family	TSC #6	18	male	Point mutation causing premature stop	Nucleotide 2427 (C->T)	Controlled epilepsy, SEGAs, low IQ
Different family	CTR #8	19	female	Normal	none	none