Neurologia e neuropediatria

Distonias

Lista de Genes
AARS1, AARS2, ACTB, ADAR, ADCY5, ADK, AFG3L2, ALS2, ANO3, AP1S2, APTX, ARFGEF2, ARSA, ARSG, ARX, ATAD3A, ATAD3B, ATF4, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2A3, ATP7A, ATP7B, AUH
BCAP31, BCS1L, BSCL2, BTK
C19ORF12, CACNA1A, CACNA1B, CACNA1G, CHMP2B, CHRNA4, CIZ1, CLCN1, CLCN2, CLN3, COASY, COL4A1, COL6A3, COQ8A, COX10, COX15, COX20, CP, CSF1R, CSTB, CTNNB1, CTSF, CYP27A1
DCAF17, DCTN1, DDC, DDX3X, DEPDC5, DHFR, DLAT, DNAH17, DNAJC12, DNAJC6, DNM1L, DRD1, DRD2, DRD3, DRD5
EARS2, ECHS1, ELP1, ERCC6
FA2H, FASTKD2, FBXO7, FITM2, FOXG1, FOXRED1, FTL, FUCA1
GALC, GAMT, GCDH, GCH1, GFAP, GFM2, GLB1, GLRA1, GM2A, GNAL, GNAO1, GNB1, GRIK2, GRIN2B
HACE1, HEPACAM, HEXA, HIBCH, HPCA, HPRT1, HTRA2
IFIH1
KCNA1, KCNA2, KCNB1, KCND3, KCNMA1, KCNQ2, KCTD17, KIF1A, KIF1C, KMT2A, KMT2B
L2HGDH, LINGO1, LIPT1
MAT1A, MCOLN1, MECP2, MECR, MICU1, MLC1, MMADHC, MMUT, MOCS1, MPV17, MRE11, MYO5A, MYOD1
NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NKX2-1, NKX6-2, NPC1, NPC2, NUP62
OPA3, OPTN
PANK2, PARK7, PCDH12, PDE2A, PDGFB, PDGFRB, PDHA1, PDHX, PINK1, PLA2G6, PLEKHG2, PLP1, PNKD, PNKP, PNPT1, PRKCG, PRKN, PRKRA, PRRT2, PSEN1, PTEN, PTS
QDPR, QKI
RAB12, REEP4, RELN, RHOBTB2, RNASEH2A, RNASEH2B, RNASEH2C
SAMHD1, SCN1A, SCN2A, SCN8A, SCP2, SDHA, SDHAF1, SERAC1, SETX, SGCE, SLC13A5, SLC16A2, SLC18A2, SLC19A3, SLC20A2, SLC25A15, SLC2A1, SLC30A10, SLC39A14, SLC46A1, SLC6A1, SLC6A3, SLC6A8, SMPD1, SOD2, SOX2, SOX6, SPG11, SPR, SPTBN4, SQSTM1, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, SYNJ1
TACO1, TAF1, TBC1D24, TBCD, TH, THAP1, TIMM8A, TOMM70, TOR1A, TOR1AIP1, TPI1, TPK1, TREM2, TREX1, TTC19, TUBB4A
UBA5, UBTF, UNC13B, UQCRQ
VAC14, VPS13A, VPS13C, VPS16, VPS37A
WARS2, WDR45, WDR73, WDR81
XPR1
YARS2, YY1
ZNF142
90 dias
2mL de sangue em tubo com EDTA