CareLit · DOI-Nachweis · Aktuelle Neurologie
Episodic-ataxia-type-1-mutation in Kv1.1 reduces the current amplitude and alters the biophysical properties
DOI 10.1055/s-2004-833089
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Nachweis in CareLit
Autor:innenM Gelderblom, C Weiller, A Spauschus
ZeitschriftAktuelle Neurologie
Ausgabe09/2004
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Episodic ataxia 1 (EA1) is a rare autosomal dominant neurological disorder characterized by brief attacks of cerebellar ataxia and continuous interictal myokymia. It results from point mutations in the voltage-gated potassium channel gene KCNA1 on chromosome 12p. Here we investigated an EA1 mutation located in close vicinity of the pore region of the channel. We assessed whole-cell currents by two-electrode voltage…
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Zitierempfehlung
M Gelderblom, C Weiller, A Spauschus (2004) Episodic-ataxia-type-1-mutation in Kv1.1 reduces the current amplitude and alters the biophysical properties. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2004-833089
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