KCNA1
KCNA1 is a gene that encodes the voltage-gated potassium channel subunit Kv1.1 in humans. Mutations in this gene have been associated with episodic ataxia type 1 and myokymia with periodic ataxia.
Function[edit | edit source]
The KCNA1 gene provides instructions for making a protein that is critical for the normal function of nerve cells. The protein forms a channel that controls the flow of potassium ions into these cells. This flow of ions is required for the transmission of electrical signals, which is essential for normal brain function.
Clinical significance[edit | edit source]
Mutations in the KCNA1 gene can lead to episodic ataxia type 1, a condition characterized by episodes of poor coordination and balance (ataxia). These episodes can last for several hours and are often triggered by stress, fatigue, or alcohol. Some people with episodic ataxia type 1 also experience myokymia, a condition that causes involuntary muscle twitching.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
