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

作者：Vila Pueyo Marta; Gene Gemma G; Flotats Bastardes Marina; Elorza Xabier; Sintas Celia; Valverde Miguel A; Cormand Bru; Fernandez Fernandez Jose M; Macaya Alfons^*

来源：European Journal of Paediatric Neurology, 2014, 18(3): 430-433.

DOI：10.1016/j.ejpn.2013.12.011

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

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.

• 出版日期2014-5