Gene | Locus | Mutation | Transmission | Phenotype | Protein | Reference(s) |
---|---|---|---|---|---|---|
SCN1A | 2q24 | Point mutation | De novo | ASD, E, ID | Nav1.1 (Na+ channel) | |
Deletion | Dominant inheritance | |||||
SCN2A | 2q23–q24.3 | Deletion | De novo | ASD, E, ID | Nav1.2 (Na+ channel) | |
Point mutation | Inherited | |||||
SCN3A | 2q24 | Deletion | De novo | E, ID | Nav1.3 (Na+ channel) | |
SCN1B | 19q13.1 | Point mutation | Dominant inheritance | E | β1 subunit (Na+ channel) | [25] |
KCNA1 | 12p13 | Point mutation | Dominant inheritance | E, ID | Kv1.1 (K+ channel) | |
KCNQ2 | 20q13.3 | Point mutation | Dominant inheritance | E, ID | KV7.2 (K+ channel) | |
Deletion | De novo | |||||
KCNQ3 | 8q24 | Point mutation | Not known | E | KV7.3 (K+ channel) | [30] |
KCNMA1 | 10q22 | Point mutation | Dominant inheritance | ASD, E, ID | KCa1.1 (K+ channel) | |
De novo | ||||||
CACNA1A | 19p13 | Point mutation | De novo | E, ID | CaV2.1 (Ca2+ channel) | [33] |
Dominant inheritance | ||||||
GABRA1 | 5q34–q35 | Point mutation | Dominant inheritance | E | Α1 subunit (GABAA receptor) | [34] |
GABRG2 | 5q34 | Point mutation | Dominant inheritance | E, ID | γ subunit (GABAA receptor) | |
CHRNA2 | 8p21 | Point mutation | Dominant inheritance | E | α2 subunit (nACh receptor) | [37] |
CHRNA4 | 20q13.2–q13.3 | Point mutation | Dominant inheritance | E, ID | α4 subunit (nACh receptor) | |
De novo | ||||||
CHRNB2 | 1q21 | Point mutation | Dominant inheritance | E | β2 subunit (nACh receptor) | [40] |
De novo | ||||||
NLGN3 | Xq13.1 | Point mutation | Inherited | ASD | Inhibitory synapse formation | [41] |
NLGN4 | Xp22.31 | Point mutation | Inherited | ASD, ID | Synapse formation | |
Deletion | ||||||
CDH8 | 16q21 | Deletion | Inherited | ASD | Synapse formation | [43] |
PCDH10 | 4q28.3 | Deletion | Inherited | ASD | Synapse formation | [44] |
PCDH19 | Xq22 | Deletion | De novo | E, ID | Synapse formation | [45] |
Point mutation | Inherited | |||||
NRXN1 | 2p16.3 | Deletion | Recessive inheritance | ASD, E, ID, SCZ | Synapse formation | |
Point mutation | De novo | |||||
CNTNAP2 | 7q35 | Deletion | Recessive inheritance | ASD, E, ID, SCZ | Synapse formation | |
Point mutation | De novo | |||||
SHANK2 | 11q13.4 | Deletion | De novo | ASD, ID | Synapse scaffolding | [52] |
Point mutation | Inherited | |||||
SHANK3 | 22q13.3 | Deletion | De novo | ASD, ID, SCZ | Synapse scaffolding | |
Point mutation | Inherited | |||||
SYNGAP1 | 6p21.3 | Point mutation | De novo | ASD, E, ID | Synapse RasGAP | |
Deletion | Inherited, de novo | |||||
CDKL5 | Xp22 | Point mutation | De novo | E, ID | Cyclin-dependent kinase-like 5 | |
Deletion | Inherited | |||||
ARX | Xp22.13 | Duplication | Inherited | ASD, E, ID | Aristaless-related homeobox protein | |
De novo | ||||||
ATP1A2 | 1q21–23 | Point mutation | Dominant inheritance | E, ID | Sodium-potassium ATPase | |
SLC2A1 | 1p35–p31.1 | Deletion | Dominant inheritance | E, ID | GLUT1 | [63] |
Point mutation | De novo | Â | Â | Â | ||
Recessive inheritance | ||||||
STXBP1 | 9q34.1 | Point mutation | Inherited | E, ID | Syntaxin-binding protein | [64] |
 |  |  | De novo |  |  |  |