Disease

Epilepsy Of Infancy With Migrating Focal Seizures

About the Disease
Developmental and Epileptic Encephalopathy 14, also known as malignant migrating partial seizures of infancy, is related to developmental and epileptic encephalopathy 7 and febrile seizures, and has symptoms including clonus and twitching of facial muscles. An important gene associated with Developmental and Epileptic Encephalopathy 14 is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include brain, tongue and eye, and related phenotypes are poor eye contact and spasticity

Common Targets
SCN2A | RHOBTB2 | SLC25A22 | GNAO1 | CDKL5 | PIGA | GABRG2 | CHD2 | SMC1A | SCN8A | TBC1D24 | SLC12A5 | GABRB3 | GABRA1 | ATP1A3 | KCNT2 | KARS1 | SCN1A | ITPA | KCNT1 | FGF12 | BRAT1 | CACNA1A | ALG3 | HCN1 | ALG1 | RFT1 | GABRB1 | KCNQ2

疾病靶点研报
Epilepsy Of Infancy With Migrating Focal Seizures

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