Journal
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume 18, Issue 3, Pages 430-433Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.ejpn.2013.12.011
Keywords
Benign paroxysmal torticollis of infancy; CACNA1A; P/Q channel; Patch clamp; Genetics
Categories
Funding
- Spanish Ministry of Science and Innovation
- Spanish Ministry of Economy and Competitiveness
- Fondos Europeos de Desarrollo Regional (FEDER)
- Plan E [SAF2009-13182-C01, SAF2009-13182-C02, SAF2009-13182-C03, SAF2012-31089, SAF2012-38140]
- Fondo de Investigacion Sanitaria [Red HERACLES RD12/0042/0014]
- Generalitat de Catalunya [2009SGR1369, 2009SGR0971, 2009SGR0078]
- ICREA Academia Award (Generalitat de Catalunya)
- VHIR, Barcelona (Spain)
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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. (C) 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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