August 1, 1999The FASEB Journal

Mutations in the KCNA1 gene associated with episodic ataxia type‐1 syndrome impair heteromeric voltage‐gated K + channel function

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Structured PICO

Population

In vitro model expressing human voltage-gated potassium channel subunits (hKv1.1 and hKv1.2)

Intervention

hKv1.1 subunits bearing the EA-1 mutations V408A and E325D coexpressed with hKv1.2

Comparator

Wild-type hKv1.1 and hKv1.2 channels

Outcome

Channel kinetics (activation, deactivation, C-type inactivation, voltage dependence) and mean open durationsurrogate

EA-1 mutations in hKv1.1 profoundly alter the gating properties of heteromeric hKv1.1/hKv1.2 channels, providing a physiopathogenetic mechanism for episodic ataxia type-1.

Discussion

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Implication

May inform EA-1 therapy development targeting channel kinetics; leaves open clinical translation pending human studies.

Cite This Study

D’Adamo et al. (1999) studied this question.

synapsesocial.com/papers/6a8a570c331f3ed9ab2e51a3 https://doi.org/10.1096/fasebj.13.11.1335

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Mutations in the KCNA1 gene associated with episodic ataxia type‐1 syndrome impair heteromeric voltage‐gated K + channel function

Structured PICO

Discussion

Implication

Cite This Study

Mutations in the KCNA1 gene associated with episodic ataxia type‐1 syndrome impair heteromeric voltage‐gated K + channel function

Structured PICO

Discussion

Implication

Cite This Study

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