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Case Reports
. 2009 Sep 22;73(12):993-5.
doi: 10.1212/WNL.0b013e3181b87959.

A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A

S Rajakulendran  1 , S V Tan, E Matthews, S E Tomlinson, R Labrum, R Sud, D M Kullmann, S Schorge, M G Hanna
Affiliations
Case Reports

A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A

S Rajakulendran et al. Neurology. .
No abstract available

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Figures

None
Figure Clinical neurophysiology and functional studies on the V299I mutation identified in the patient (A) Myokymic discharges intermixed with myotonic discharges. (B) Representative current traces of HEK cells expressing Kv1.1 WT, WT:V299I, and V299I obtained by applying a voltage step from a holding potential of −80 mV to 0 mV. Low potassium internal solution (in mM: KCl, 2.5; NaCl, 140; HEPES, 10; and EGTA, 10, pH = 7.3) was used to generate tail currents for assessing current density (see e-Methods). (C) Normalized voltage dependence of activation for cell expressing WT, mutant V299I, and WT: V299I (n = 5 for each). Tail currents were sampled 1 msec after return to −80 mV. Error bars are SEM. Inset: Peak potassium currents from representative cells expressing WT, V299I, and WT: V299I. (D) Maximum tail current density measured at +60 mV for WT, V299I, and WT: V299I. Error bars are SEM.
See this image and copyright information in PMC

References

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    1. Ptacek LJ, George AL, Jr., Barchi RL, et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 1992;8:891–897. - PubMed
    1. Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994;8:136–140. - PubMed
    1. Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Episodic ataxia type 1: a neuronal potassium channelopathy. NeuroRx 2007;4:258–266. Review. - PubMed
    1. Eunson LH, Rea R, Zuberi SM, et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 2000;48:647–656. - PubMed

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