Infantile Spasm
Infantile Spasm
About the Disease
West Syndrome, also known as infantile spasms, is related to developmental and epileptic encephalopathy 1 and lennox-gastaut syndrome, and has symptoms including seizures An important gene associated with West Syndrome is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Glucose / Energy Metabolism and Angiopoietin-like protein 8 regulatory pathway. The drugs PK 11195 and Strawberry have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and temporal lobe, and related phenotypes are developmental regression and myoclonus
Common Targets
TCF3 | GUF1 | NDUFA10 | ZNF69 | Metabotropic glutamate (mGluR) receptor (nonspecified subtype) | GABA(A) receptor | STEAP4 | ZNF75D | KRTAP9-1 | Voltage-Gated Sodium Channel Complex | NUDT18 | SIGMAR1 | SLC35A2 | CHRM1 | HDAC8 | COL4A1 | KCNQ3 | Sodium channel (nonspecified subtype) | GDPD2 | SCN3A | TRPV2 | ELK1 | CPLANE1 | CDKL5 | PIGW | USP26 | RHCE | ZNF668 | AGRN | TSC2 | SCN8A | DENND2C | SART1 | SRPK3 | AVPR2 | MC2R | GEMIN4 | ZNF492 | TBCD | CHFR | FRY | CHD2 | ADGRG2 | SCNN1D | MAGEB1 | ARX | WDR45 | ZNF41 | ZNF98 | GRIN2A | RALGAPB | THEG | SUPT20HL1 | MFF | SPTAN1 | NMDA receptor | CNTRL | MUC5B | POLG | TRPA1 | ELOVL4 | PNMA5 | PRODH | ADGRG4 | NCK1 | GABRA1 | GABRB3 | ARHGEF7 | AHNAK | CHD3 | HLX | MUC12 | CREBBP | MED25 | RBBP8NL | LRRC17 | TASL | GABBR2 | BMS1 | NR2F1 | CCNB3 | GDF6 | GPR55 | TNXB | C16orf78 | BRAT1 | TELO2 | ARMCX4 | MAOB | AKT3 | CNPY3 | TTLL5 | ZNF211 | GRIN2B | CCSER1 | OLFM3 | ANK2 | RBM23 | PRUNE1 | KIAA1210 | PCNT | PLCB1 | DMD | ITIH6 | ABAT | STARD9 | CDH23 | FOXK1 | KCNQ2 | DNAH14 | DCC | EDA2R | SCN2A | BRCA2 | STXBP1 | TUBB2A | AFAP1L2 | Melanocortin receptor (nonspecified subtype) | KBTBD7 | RP1L1 | ABCD1 | ABHD16B | ADSL | CAPN12 | IQSEC2 | WDHD1 | DSG2 | TRPM8 | SSPOP | ZMAT1 | PNPO | TACC2 | ABCA13 | BRWD3 | PHACTR1 | TRPV1 | BAZ2B | ALG13 | TMEM87A | FRMD7 | MUC17 | EPS8L2
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