Developmental Epileptic Encephalopathy - Monoallelic

Configuration file
Disease/Phenotype terms: epilepsy
Additional disease/phenotype
associated terms:
epileptic, seizure, brain, nerve, nervous, neuronal, cerebellum, cerebral, hippocampus, hypothalamus, cortex, cortical, neuron, neurological, behavior, behaviour, developmental, synaptic


Seed genes
AFF3, ALG13, AP2M1, ARHGEF9, ARID1B, ARX, ATP1A2, ATP1A3, ATP6V1A, CACNA1A, CACNA1E, CASK, CDK19, CDKL5, CELF2, CHD2, CLCN4, CUX2, CYFIP2, DNM1, DNM1L, DYNC1H1, DYRK1A, EEF1A2, FGF12, FGF13, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GNAO1, GNB1, GRIN1, GRIN2A, GRIN2B, GRIN2D, HCN1, HNRNPU, IQSEC2, IRF2BPL, KCNA2, KCNB1, KCNC1, KCNH1, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KIAA2022, MBD5, MECP2, MEF2C, NEUROD2, NSF, NTRK2, NUS1, PACS2, PCDH19, PHACTR1, PIGA, PPP3CA, PURA, RHOBTB2, RNF13, SCN1A, SCN2A, SCN3A, SCN8A, SIK1, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SPTAN1, STX1B, STXBP1, SYNGAP1, TCF4, TRIM8, TSC1, TSC2, UBE3A, WDR45, YWHAG, ZEB2

Copyright © 2022 Baylor College of Medicine