Disease

Episodic Ataxia Type 1

About the Disease
Episodic Ataxia, Type 1, also known as episodic ataxia type 1, is related to cerebellar disease and episodic ataxia, type 2, and has symptoms including muscular fasciculation, muscle cramp and muscle rigidity. An important gene associated with Episodic Ataxia, Type 1 is KCNA1 (Potassium Voltage-Gated Channel Subfamily A Member 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include skin, spinal cord and brain, and related phenotypes are postural instability and poor coordination

Common Targets
KCNA1

疾病靶点研报
Episodic Ataxia Type 1

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