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. 2021 Apr;17(2):333-335.
doi: 10.3988/jcn.2021.17.2.333.

A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls

Geum Bong Lee  1 , Ga Yeon Kim  1 , In Hwa Jeong  2 , Namhee Kim  2 , Jae Woo Kim  3
Affiliations

A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls

Geum Bong Lee et al. J Clin Neurol. 2021 Apr.
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. Pedigree, EEG, brain MRI, and next-generation sequencing of the KCNA1 mutation. A: There was no family history on the pedigree of the proband. B: EEG signals associated with myoclonic jerks reveal polyspike discharges at 3–5 Hz. C: Brain MRI showed cerebellar atrophy. D: Next-generation sequencing confirmed the heterozygous status for the c.791del (p.Pro264LeufsTer 10) mutation of KCNA1.
See this image and copyright information in PMC

Comment in

References

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