Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2

This publication has 30 references indexed in Scilit:

• A fine physical map of the CACNA1A gene region on 19p13.1–p13.2 chromosome
  Gene, 2000
• CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci
  Philosophical Transactions Of The Royal Society B-Biological Sciences, 1999
• Recurrence of the T666M Calcium Channel CACNA1A Gene Mutation in Familial Hemiplegic Migraine with Progressive Cerebellar Ataxia
  American Journal of Human Genetics, 1999
• Familial Hemiplegic Migraine Mutations Change α1ACa2+ Channel Kinetics
  Published by Elsevier ,1998
• Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene
  American Journal of Human Genetics, 1997
• Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p
  Human Molecular Genetics, 1997
• Molecular Determinants of High Affinity Phenylalkylamine Block of l-type Calcium Channels in Transmembrane Segment IIIS6 and the Pore Region of the α1Subunit
  Journal of Biological Chemistry, 1997
• Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
  Nature Genetics, 1997
• Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
  Cell, 1996
• Eye Movements in a Familial Vestibulocerebellar Disorder
  Neuropediatrics, 1993