Epilepsy and developmental delay (incl. epileptic encephalopathies)

Description

Epilepsy and developmental delay (including epileptic encephalopathy)

Набор генов, включенных в анализ:
AARS, ALDH7A1, ALG13, AMT, ANKRD11, AP3B2, ARHGEF9, ARV1, ARX, ATP6V1A, BRAT1, CACNA1A, CACNA1E, CAD, CAMK2A, CAMK2B, CASK, CDKL5, CHD2, CP2, C3NF, CLCN4, CLCN4 DDX3X, DENND5A, DHDDS, DNM1, DOCK7, EEF1A2, FGF12, FOXG1, FRRS1L, gabbr2, GABRA1, GABRB1, gabrb2, GABRB3, GAMT, GLDC, GNAO1, GNB1, GRIA4, GRIN1, GRIN2A, grin2b, GRIN2D, HACE1, HCN1, HNRNPU, IQSEC2, ITPA, KCNA2, KCNB1, KCNQ2, KCNQ5, KCNT1, KCNT2, LNPK, MBD5, MBOAT7, MDH2, MECP2, MEF2C, MOCS1, MOCS2, PHOCP2, PEGP2, MECS1, PACP2, NEXM2 PNKP, PNPO, POLG, PPP3CA, PURA, RHOBTB2, ROGDI, SCN1A, SCN2A, SCN3A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC2A, SLCA2, SLCA2, SLCA2 SYNGAP1, SYNJ1, SZT2, TBC1D24, TBL1XR1, TCF4, TRAK1, TSC1, TSC2, UBA5, UBE3A, WDR45, WWOX, YWHAG, ZEB2