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BLUNCK R.

Last name: BLUNCK R.

2021 (v1)

Publication

Metadata-only

Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel

Imbrici P. Accogli A. Blunck R.

The KCNA1 gene encodes the α subunit of the voltage-gated Kv1.1 potassium channel that critically regulates neuronal excitability in the central and peripheral nervous systems. Mutations in KCNA1 have been classically associated with episodic ataxia type 1 (EA1), a movement disorder triggered by physical and emotional stress. Additional...

Uploaded on: March 27, 2023