Referenced in: none

Automatically associated channels: Cav2.1

Title: A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy.

Authors: Marta Vila-Pueyo, Gemma G Gené, Marina Flotats-Bastardes, Xabier Elorza, Cèlia Sintas, Miguel A Valverde, Bru Cormand, José M Fernández-Fernández, Alfons Macaya

Journal, date & volume: Eur. J. Paediatr. Neurol., 2014 May , 18, 430-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24445160

Abstract
Benign paroxysmal torticollis of infancy (BPTI) is a rare paroxysmal disorder characterized by recurrent episodes of head tilt and accompanying general symptoms which remit spontaneously. The rare association with gain-of-function CACNA1A mutations, similar to hemiplegic migraine, has been reported. We report here two new BPTI patients from the same family carrying a heterozygous mutation in the CACNA1A gene leading to the change p.Glu533Lys. Functional analysis revealed that this mutation induces a loss of channel function due to impaired gating by voltage and much lower current density. Our data suggest that BPTI, a periodic syndrome commonly considered a migraine precursor, constitutes an age-specific manifestation of defective neuronal calcium channel activity.