Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Proceedings of the National Academy of Sciences of the United States of America

• Publication date

  2001-09-25

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1073/pnas.211431298PMID 11572947PMCID PMC59804
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  1998cited by this paper
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  1998cited by this paper
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  1996cited by this paper
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  1961cited by this paper

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