Episodic Ataxia, Type 1 (EA1)

Alias:

Episodic Ataxia Type 1

Episodic Ataxia/myokymia Syndrome

Episodic Ataxia with Myokymia

Ea1

Eam

Paroxysmal Ataxia with Neuromyotonia, Hereditary

Continuous Muscle Fiber Activity, Hereditary

Paroxysmal Ataxia with Neuromyotonia

Ataxia, Episodic, with Myokymia

Myokymia with Periodic Ataxia

Ataxia, Episodic, Type 1

Myokymia Isolated 1

Episodic Ataxia 1

Isaacs Syndrome

Aemk

Ea-1

Aem

Mk1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Episodic Ataxia, Type 1, also known as episodic ataxia type 1, is related to cerebellar disease and epilepsy, 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 and brain, and related phenotypes are postural instability and poor coordination

Related ID：

MALACARDS：EPS042

OMIM：160120

MESH：D020385