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Eur J Paediatr Neurol. 2014 May;18(3):430-3. doi: 10.1016/j.ejpn.2013.12.011. Epub 2014 Jan 8.

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

Author information

1
Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
2
Laboratori de Fisiologia Molecular i Canalopaties, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain.
3
Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
4
Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain.
5
Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Electronic address: amacaya@vhebron.net.

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.

KEYWORDS:

Benign paroxysmal torticollis of infancy; CACNA1A; Genetics; P/Q channel; Patch clamp

PMID:
24445160
DOI:
10.1016/j.ejpn.2013.12.011
[Indexed for MEDLINE]

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