OSCR

CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine.

Overview

Authors: Zhongyuan Long1, Shuxian Gong1, Dongyan Ji1, Xuan Guo2,3, Lisen Sui1, Xiaofeng Yang2,4, Jiabin Yu1
  1. The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, 510000 Guangzhou, China
  2. Guangzhou National Laboratory, Guangzhou, China
  3. Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, 510000 Guangzhou, China
  4. Department of Neurology, The First Affiliated Hospital of Shantou University Medical College, 515063 Shantou, China
Journal: BMC neurology, volume 26, issue 1, article 400
Dates: received 24 September 2025; accepted 27 April 2026; published online 1 May 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1186/s12883-026-04944-z · PMID 42067833 · PMCID PMC13281613 · OpenAlex W7159841089
Open access: gold, a free copy (OpenAlex)
Status: data only
Categories: genetics / omics (modality), human (organism), other condition (population), epilepsy (population), pain (population), clinical / translational (subfield)
Methods: Preprocessing, Physiology & signal measures
Keywords: CACNA1A, Epilepsy, Episodic ataxia, Familial hemiplegic migraine, Benign paroxysmal positional vertigo, Sex-biased penetrance
MeSH: Calcium Channels*, Calcium Channels, N-Type*, Epilepsy*, Migraine Disorders*, Adult, Female, Humans, Male, Middle Aged, Pedigree, Retrospective Studies (* major topic)
Topic: Genetic Neurodegenerative Diseases (Cellular and Molecular Neuroscience, Neuroscience), according to OpenAlex
Funding: National Natural Science Foundation of China (82271492)
Citations: not cited yet (Europe PMC); 17 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

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Data

Datasets cited

Data availability statement

The paper has a data availability statement. Its license (CC BY-NC-ND) does not allow reproducing it here; in short, from what the harvester recognized in it:

Read it in the paper: doi.org/10.1186/s12883-026-04944-z.

Versions

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Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 7 authors, 6 keywords, 11 MeSH terms, 1 funder, 17 references.

Cite

This paper

Long, Z., Gong, S., Ji, D., Guo, X., Sui, L., Yang, X., & Yu, J. (2026). CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine. BMC neurology, 26(1), 400. https://doi.org/10.1186/s12883-026-04944-z

BibTeX

@article{long2026cacna1a,
author = {Long, Zhongyuan and Gong, Shuxian and Ji, Dongyan and Guo, Xuan and Sui, Lisen and Yang, Xiaofeng and Yu, Jiabin},
title = {{CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine}},
journal = {BMC neurology},
year = {2026},
month = may,
volume = {26},
number = {1},
pages = {400},
publisher = {BMC},
issn = {1471-2377},
doi = {10.1186/s12883-026-04944-z},
url = {https://doi.org/10.1186/s12883-026-04944-z},
pmid = {42067833},
pmcid = {PMC13281613}
}

RIS

TY - JOUR
AU - Long, Zhongyuan
AU - Gong, Shuxian
AU - Ji, Dongyan
AU - Guo, Xuan
AU - Sui, Lisen
AU - Yang, Xiaofeng
AU - Yu, Jiabin
TI - CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine
T2 - BMC neurology
J2 - BMC Neurol
PY - 2026
DA - 2026/05/01
VL - 26
IS - 1
SP - 400
SN - 1471-2377
PB - BMC
DO - 10.1186/s12883-026-04944-z
UR - https://doi.org/10.1186/s12883-026-04944-z
LA - en
ER -

CSL-JSON

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"title": "CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine",
"container-title": "BMC neurology",
"author": [
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"given": "Zhongyuan"
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"container-title-short": "BMC Neurol",
"volume": "26",
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"page": "400",
"DOI": "10.1186/s12883-026-04944-z",
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"PMCID": "PMC13281613",
"ISSN": "1471-2377",
"publisher": "BMC",
"URL": "https://doi.org/10.1186/s12883-026-04944-z",
"language": "en",
"issued": {
"date-parts": [
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}

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