Developmental Epileptic Encephalopathy - Biallelic

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
AARS, ACTL6B, ADAM22, AP3B2, ARV1, BRAT1, CACNA2D2, CAD, CARS2, CNPY3, COQ2, COQ4, CPLX1, D2HGDH, DALRD3, DENND5A, DMXL2, DNM1L, DOCK7, FRRS1L, GAD1, GLS, GLUL, GOT2, GPHN, GRIN1, GUF1, ITPA, KCNMA1, MDH1, MDH2, NECAP1, OGDHL, PARS2, PIGB, PIGP, PIGQ, PIGS, PLAA, PLCB1, PNKP, PNPO, PRICKLE2, PTPN23, ROGDI, SCN1B, SLC12A5, SLC13A5, SLC1A4, SLC25A12, SLC25A22, SLC25A42, ST3GAL3, SYNJ1, SZT2, TBC1D24, TIMM50, TRAK1, UBA5, UGDH, UGP2, VARS, WWOX

Copyright © 2022 Baylor College of Medicine