Disease

Benign Familial Infantile Seizures

About the Disease
Benign Familial Infantile Epilepsy, also known as benign familial infantile seizures, is related to seizures, benign familial infantile, 1 and convulsions, familial infantile, with paroxysmal choreoathetosis, and has symptoms including cyanosis An important gene associated with Benign Familial Infantile Epilepsy is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include brain, liver and colon, and related phenotypes are normal interictal eeg and apnea

Common Targets
SLC28A1 | KCNQ3 | SCN8A | PRRT2 | CHRNA2 | SCN1B | GABRA6 | KCNQ2 | SCN2A

疾病靶点研报
Benign Familial Infantile Seizures

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