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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-12-2021
Symbol BPTI
Location 19p13.2
Name benign paroxysmal torticollis of infancy
Corresponding gene CACNA1A
Main clinical features
  • characterized by recurrent episodes of head tilt secondary to cervical dystonia, often accompanied by vomiting, pallor, and ataxia, settling spontaneously within hours or days, between 1 and 5 years
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
    Remark(s) mutation in the intracellular domain between s4 and s5 of repeat 3 can cause atypical nystagmus/cerebellar phenotypes, including isolated nystagmus