Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2

J Med Genet. 2004 Jun;41(6):e82. doi: 10.1136/jmg.2003.015396.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Sequence
  • Calcium Channels, N-Type / genetics*
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / pathology
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Sequence Homology, Amino Acid

Substances

  • Calcium Channels, N-Type
  • voltage-dependent calcium channel (P-Q type)

Associated data

  • OMIM/108500
  • OMIM/141500
  • OMIM/183086
  • OMIM/601369