Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2014

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium Channels
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Migraine Disorders

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 24445160
DOI: 10.1016/j.ejpn.2013.12.011

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy.PMID 24445160Read ↗

Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation.Semantic proximity Read ↗

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function.Semantic proximity Read ↗

The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition.Semantic proximity Read ↗

The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?Semantic proximity Read ↗

Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic SyndromesSemantic proximity Read ↗

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.Semantic proximity Read ↗

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.Semantic proximity Read ↗

Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.Semantic proximity Read ↗

A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels.Semantic proximity Read ↗

Benign paroxysmal torticollis: phenotype, natural history, and quality of life.Semantic proximity Read ↗

New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus.Semantic proximity Read ↗

Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.