Episodic Ataxia (EA)

Alias:

Isaacs Syndrome

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Acquired Neuromyotonia

Ataxia, Episodic

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Episodic Ataxia, also known as isaacs syndrome, is related to episodic ataxia, type 3 and episodic ataxia, type 4, and has symptoms including muscular fasciculation, muscle cramp and muscle rigidity. An important gene associated with Episodic Ataxia 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 eye and brain, and related phenotypes are eeg abnormality and hyperhidrosis

Related ID：

MALACARDS：EPS003

MESH：C580065