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Elsevier, European Journal of Paediatric Neurology, 3(18), p. 430-433

DOI: 10.1016/j.ejpn.2013.12.011

BioMed Central, Journal of Headache and Pain, Suppl 1(1), p. P24

DOI: 10.1186/1129-2377-1-s1-p24

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

Journal article published in 2013 by Marta Vila-Pueyo ORCID, Cèlia Sintas, M. Flotats, Gemma G. Gené, Gené G., Xabier Elorza, Jm Fernández-Fernández, Miguel A. Valverde, Fernández Fernández Jm, Bru Cormand, Alfons Macaya
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.