Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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