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Comment
. 2022 Mar;18(2):235-237.
doi: 10.3988/jcn.2022.18.2.235.

A Novel KCNA1 Variant Manifesting as Persistent Limb Myokymia Without Episodic Ataxia

In Ja Shin  1 , Sung-Yeon Sohn  2 , Shin Yeop Kim  1 , In Soo Joo  1
Affiliations
Comment

A Novel KCNA1 Variant Manifesting as Persistent Limb Myokymia Without Episodic Ataxia

In Ja Shin et al. J Clin Neurol. 2022 Mar.
No abstract available

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Conflict of interest statement

The authors have no potential conflicts of interest to disclose.

Figures

Fig. 1
Fig. 1. Needle electromyography findings and schematic representation of the voltage-gated potassium channel (Kv1.1). A: Multiplets and myokymic discharges firing with an intraburst frequency of 40–80 Hz and an interburst frequency of 4 Hz in a patient with persistent thigh-muscle spasms. B: Schematic view of the Kv1.1 alpha subunit. The alpha subunit encoded by KCNA1 consists of six transmembrane segments (S1–S6). Four segments (S1–S4) comprise the voltage-sensor domain, and two segments (S5 and S6) form an ion-conduction pore domain. Reported cases with mutation at amino acid position 242 are listed in the rounded rectangle (1: current case). More than 47 different KCNA1 mutations have been identified along the entire length of the protein. EA, episodic ataxia.
See this image and copyright information in PMC

Comment on

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