Seizures, Benign Familial Infantile, 5 (BFIS5)

Seizures, Benign Familial Infantile, 5(来自ICD-11)

别称:

Bfis5

Convulsions, Benign Familial Infantile, 5

Benign Familial Infantile Convulsions 5

Benign Familial Infantile Seizures, 5

Benign Familial Infantile Seizures 5

Bfic5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Seizures, Benign Familial Infantile, 5, also known as bfis5, is related to seizures, benign familial infantile, 1 and infancy electroclinical syndrome. An important gene associated with Seizures, Benign Familial Infantile, 5 is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8), and among its related pathways/superpathways are L1CAM interactions and Interaction between L1 and Ankyrins. Affiliated tissues include brain, and related phenotypes are bilateral tonic-clonic seizure and paroxysmal dyskinesia

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