Table 1

Published GATOR1 gene mutations and associated phenotypes.

GeneNucleotide changeProtein changePhenotypeReferences
DEPDC5c.21C>Gp.Tyr7*FFEVF+BOSD18 39
DEPDC5c.1663C>Tp.Arg555*FFEVF+FCD18 38
DEPDC5c.488_490delTGTp.Phe164delFFEVF18
DEPDC5c.4107G>Ap.Trp1369*FFEVF, NFLE18 37
DEPDC5c.4606C>Tp.GIn1536*FFEVF18
DEPDC5c.1122delAp.Leu374Phe fs*30FFEVF16
DEPDC5c.715C>Tp.Arg239*FFEVF16 40
DEPDC5c.1114C>Tp.Gln372*FFEVF16
DEPDC5c.2527C>Tp.Arg843*FFEVF, FFE18 36
DEPDC5c.4397G>Ap.Trp1466*FFE18
DEPDC5c.193+1G>AFFE, ES+FE+ID+ASD18 22
DEPDC5c.279+1 G>AFFE+SBH18 39
DEPDC5c.1459C>Tp.Arg487*FFE, NFLE18 37
DEPDC5c.3802C>Tp.Arg1268*FFE18
DEPDC5c.982C>Tp.Arg328*FTLE16
DEPDC5c.4567C>Tp.Gln1523*ADNFLE16
DEPDC5c.418C>Tp.Gln140*FFE+BOSD39
DEPDC5c.3311C>Tp.Ser1104LeuFFE18
DEPDC5c.3217A>Cp.Ser1073ArgFFE18
DEPDC5c.1355C>Tp.Ala452ValFFE, FCD18 41
DEPDC5c.1454G>Ap.Arg485GlnFTLE16
DEPDC5c.3417delAp.Ile1139Met fs*24FECTS21
DEPDC5c.59-1G>CFECTS21
DEPDC5c.2593C>Tp.Arg865*FECTS21
DEPDC5c.727C>Tp.Arg243*FECTS, NFLE21 20
DEPDC5c.814G>Tp.Val272LeuFECTS21
DEPDC5c.268G>Ap.Val90IleFECTS21
DEPDC5c.3457A>Gp.Ser1153GlyFECTS21
DEPDC5c.2591C>Tp.Thr864MetFECTS36
DEPDC5c.484-1G>A –FFE+FCD40
DEPDC5c.1264C>Tp.Arg422*FFE+FCD, FLE20 40
DEPDC5c.1759C>Tp.Arg587*FFE+FCD40
DEPDC5c.783_786delTGAGp.Asn261Lys fs*11FCD41
DEPDC5c.6241+1G>AFCD41
DEPDC5c.128_129insCp.Asn45Gln fs*3HME41
DEPDC5c.2355-2A>GNFLE37
DEPDC5c.3259C>Tp.Arg1087*NFLE37
DEPDC5c.4112delTp.Leu1371Arg fs*14EAF17
DEPDC5c.918C>Gp.Tyr306*EAF17 43
DEPDC5c.3265-3C>TTLE20
DEPDC5c.1092_1099insGGATTTGGp.Val367Gly fs*40FLE20
DEPDC5c.1625A>Cp.Gln542ProFFE20
DEPDC5c.526C>Tp.Gln176*NFLE20
DEPDC5c.4033+5A>GTLE20
DEPDC5c.3461C>Tp.Ser1154PheTLE20
DEPDC5c.492delTCGTTp.Arg165Tyr fs*14NFLE20
DEPDC5c.3241A>Cp.Thr1081ProECSWS20
DEPDC5c.3696+5G>A –FFE20
DEPDC5c.435G>Ap.Trp145*NFLE20
DEPDC5c.3994C>Tp.Arg1332*TLE20
DEPDC5c.640C>Gp.His214AspNFLE20
DEPDC5c.161A>Cp.Gln54ProTLE20
DEPDC5c.3803G>Ap.Arg1268GlnTLE20
DEPDC5c.1909C>Tp.Arg637*NFLE20
DEPDC5c.985delAp.Thr329Leu fs*7NFLE20
DEPDC5c.2390delAp.Gln797Arg fs*18ES+EE+FCD+ASD22
DEPDC5c.1555C>Tp.Gln519*ES+EE+FLE22
DEPDC5c.3092C>Ap.Pro1031HisES+EE22
DEPDC5c.842A>Tp.Tyr281PheES+EE+FCD22
NPRL2c.100 C>Tp.Arg34*NFLE20
NPRL2c.883C>Tp.Arg295*TLE20
NPRL2c.329 C>Gp.Thr110SerTLE20
NPRL2c.640 G>Cp.Asp214HisFLE20
NPRL2c.314T>Cp.Leu105ProNFLE20
NPRL3c.835_836insTp.Ser279Phe fs*52NFLE20
NPRL3c.1376_1377insACp.Ser460Pro fs*20FE+FCD, TLE19 20
NPRL3c.745G>Ap.Glu249LysFFE20
NPRL3c.275G>Ap.Arg92GlnFE+GE+FCD, FLE19 20
NPRL3c.954_955insCCCAp.Trp319Pro fs*13TLE20
NPRL3c.1352_1354 delACAGins TGACCCATCC FE+FCD19
  • Variants classified as pathogenic by functional studies are indicated in bold.19 ,42 Mutation p.Tyr306* in the same family has been independently described in Pippucci et al and Striano et al.17 ,43 ,44 Mutation p.Arg239* in the same family has been reported in two separate publications.16 ,40

  • ADNFLE, autosomal-dominant nocturnal frontal lobe epilepsy; ASD, autism spectrum disorder; BOSD, bottom-of-sulcus dysplasia; EAF, epilepsy with auditory features; ECSWS, epileptic encephalopathy with continuous spike and wave in slow-wave sleep; EE, epileptic encephalopathy; ES, epileptic spasms; FCD, focal cortical dysplasia; FE, focal epilepsy; FECTS, focal epilepsy with centro-temporal spikes; FFE, familial focal epilepsy; FFEVF, familial focal epilepsy with variable foci; FLE, frontal lobe epilepsy; GE, generalised epilepsy; HME, hemimegalencephaly; ID, intellectual disability; NFLE, nocturnal frontal lobe epilepsy; SBH, subtle band heterotopia; TLE, temporal lobe epilepsy.