Table 1.

Excitatory/inhibitory balance-related genes implicated in autism.

Gene/chromosomal region	Type of disruption	Function	Reference
15q11–13 (GABRB,GABRA5, GABRG3)	Chromosomal abnormalities	GABAA β3, GABAA α5, GABAA γ3 subunits	[15, 114]
D2S2188 (2q) (DLX1, DLX2, GAD65)	High LOD score	Regulation of telencephalic GABAergic neuron development; GABA synthesizing enzyme	[19, 115]
D7S477 (7q) (DLX5, DLX6)	High LOD score	Regulation of forebrain GABAergic neuron development	[19, 115]
RELN	SNPs, CNVs, rare variants	Neuronal migration, lamination, minicolumn formation, neurotransmission regulation and synaptic plasticity	[15, 116]
Neuroligin-3	Point mutation	Postsynaptic cell adhesion molecule	[108, 110]
Neuroligin-4	Rare mutations, CNVs	Postsynaptic cell adhesion molecule	[108, 110, 117, 118]
Neurexin-1	Chromosomal abnormalities, CNVs	Presynaptic cell adhesion molecule	[108, 118–121]
Shank-3	Deletions, rare mutations, chromosomal abnormalities.	Postsynaptic scaffolding protein	[108, 111–113]