Anomalias do SNC

Anomalias corticais e defeitos da migração neuronal

Lista de Genes
ACTB, ACTG1, ADAMTS3, ADGRG1, AGGF1, AHI1, AIMP1, AKT1, AKT3, ANKLE2, APC2, ARFGEF2, ARHGAP31, ARHGEF9, ARL13B, ARL3, ARMC9, ARX, ASPM, ATN1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATR
B3GALNT2, B4GAT1, B9D1, BICD2, BLTP1, BMPER
C2CD3, CASK, CASP2, CC2D1A, CCBE1, CCDC88A, CCDC88C, CCND2, CDH2, CDK5, CDK5RAP2, CDK6, CDKL5, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP41, CEP63, CEP85L, CHMP1A, CIT, COL18A1, COL3A1, COL4A1, COL4A2, COPB2, CPLANE1, CPT2, CRADD, CRBN, CRPPA, CSNK2A1, CSPP1, CTNNA2, CTU2, CUL4B
DAG1, DCHS1, DCPS, DCX, DHCR24, DHX37, DISC1, DOCK6, DYNC1H1
EDC3, EML1, EMX2, EOMES, EPG5, ERCC1, ERMARD, ETFA, ETFB, ETFDH, EXOSC3
FAM111A, FAT4, FDFT1, FGD1, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FMN2, FOXG1, FRRS1L, FTO
GFM2, GMPPB, GNAO1, GNAQ, GNB1, GPHN, GPSM2, GPX4, GRIK5, GRIN2A, GRIN2B
HNMT, HSD17B4, HYLS1
IBA57, IER3IP1, ISCA1
KATNB1, KATNIP, KCNA1, KDM5B, KIAA0586, KIF14, KIF2A, KIF5C, KIF7, KIFBP, KLHL15, KNL1
L1CAM, LAGE3, LAMA2, LAMB1, LAMC3, LARGE1, LINS1, LMAN2L
MACF1, MAN1B1, MAP1B, MAPK8IP3, MBOAT7, MCPH1, MECP2, MED12, MED23, MEF2C, METTL23, MFSD2A, MKS1, MLYCD, MN1, MPDZ, MTOR, MXRA8
NANS, NCAPD3, NCOA3, NDE1, NDN, NDST1, NEDD4L, NEK1, NEUROD2, NFIA, NHEJ1, NPHP1, NPHP3, NPRL2, NR2F1, NSDHL, NSUN2, NUP107, NUP133
OCLN, OFD1, OPHN1, OSGEP
PAFAH1B1, PALLD, PAX6, PCGF2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PHC1, PHGDH, PI4KA, PIBF1, PIDD1, PIGB, PIGC, PIGP, PIGQ, PIK3CA, PIK3R2, PLAA, PMPCA, PNKP, POLR1C, POLR3A, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, PRICKLE1, PRKDC, PRSS12, PSAT1, PTEN, PYCR2
RAB18, RAB3GAP1, RAB3GAP2, RARS2, RECQL4, RELN, RMND1, RPGRIP1L, RTTN, RXYLT1
SARS1, SARS2, SASS6, SCN1B, SCN2A, SCN3A, SF3B4, SHH, SIK1, SIN3A, SIX3, SLC25A19, SLC25A22, SLC45A1, SNAP29, SNRPN, SON, SRD5A3, SRPX2, ST3GAL3, STIL, STS, STXBP1, SUFU
TAF13, TBC1D20, TBC1D24, TBR1, TBX1, TCTN1, TCTN2, TECR, TK2, TMEM237, TMEM67, TMTC3, TMX2, TNIK, TP53RK, TPRKB, TRAPPC14, TRAPPC9, TRMT10C, TRRAP, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP6, TUFM, TUSC3
USP18
VAC14, VIPAS39, VLDLR, VPS33B, VRK1
WARS2, WASHC4, WDR26, WDR4, WDR62, WDR73, WT1
ZC3H14, ZNHIT3
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída