ArticleMolecular genetics & genomic medicine2013
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.
Article in Molecular genetics & genomic medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Concomitant Calcium Channelopathies InvolvingGenes · 2023Pooled it
- Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients.Biomedicines · 2026Article
- A Longitudinal Exploration ofNeurology. Genetics · 2025Review
- Migraine with brainstem aura with abnormal EEG discharges easily misdiagnosed as epilepsy: a case series study.Therapeutic advances in neurological disorders · 2025Article
- Clinical characterization of a novelBrain communications · 2025Article
- Familial Hemiplegic Migraine (FHM) with Transient Psychotic Symptoms: A Case Report and Literature Review.Turk psikiyatri dergisi = Turkish journal of psychiatry · 2025Review
- A minimal ion-chemistry model for predicting benign paroxysmal positional vertigo risk based on endolymphatic calcium and pH.Frontiers in neurology · 2025Article
- The Dawn and Advancement of the Knowledge of the Genetics of Migraine.Journal of clinical medicine · 2024Review
- Advances in understanding migraine pathophysiology: a bench to bedside review of research insights and therapeutics.Frontiers in molecular neuroscience · 2024Review
- Deep and unbiased proteomics, pathway enrichment analysis, and protein-protein interaction of biomarker signatures in migraine.Therapeutic advances in chronic disease · 2024Article
- "Living with"Frontiers in neurology · 2024Article
- Two pediatric patients with hemiplegic migraine presenting as acute encephalopathy: case reports and a literature review.Frontiers in pediatrics · 2023Article
- Complex effects on CaScientific reports · 2022Article
- Cognitive dysfunction in a patient with migraine and APT1A2 mutation: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.Molecular neurobiology · 2021Review
- CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.The journal of headache and pain · 2021Article
- Longitudinal MRI brain findings in the R1349Q pathogenic variant ofRadiology case reports · 2021Article
- Voltage-Gated CaFrontiers in synaptic neuroscience · 2021Review
- Rare CACNA1A mutations leading to congenital ataxia.Pflugers Archiv : European journal of physiology · 2020Review
- Advances in genetics of migraine.The journal of headache and pain · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have been detected in familial and in sporadic cases. This genetically and clinically heterogeneous disorder is often accompanied by permanent ataxia, epileptic seizures, mental retardation, and chronic progressive cerebellar atrophy. Here we report a mutation screening in the CACNA1A and ATP1A2 genes in 18 patients with HM. Furthermore, intragenic copy number variant (CNV) analysis was performed in CACNA1A using quantitative approaches. We identified four previously described missense CACNA1A mutations (p.Ser218Leu, p.Thr501Met, p.Arg583Gln, and p.Thr666Met) and two missense changes in the ATP1A2 gene, the previously described p.Ala606Thr and the novel variant p.Glu825Lys. No structural variants were found. This genetic screening allowed the identification of more than 30% of the disease alleles, all present in a heterozygous state. Functional consequences of the CACNA1A-p.Thr501Met mutation, previously described only in association with episodic ataxia, and ATP1A2-p.Glu825Lys, were investigated by means of electrophysiological studies, cell viability assays or Western blot analysis. Our data suggest that both these variants are disease-causing.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.