ArticleNeuropsychiatric disease and treatment2017
Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy.
Article in Neuropsychiatric disease and treatment, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 23 citations in OpenAlex.
- In vitro human ion channel assays predictive of drug-induced seizure.Toxicological sciences : an official journal of the Society of Toxicology · 2025Article
- A Review of theDiseases (Basel, Switzerland) · 2024Review
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.Genes · 2024Article
- Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants inFrontiers in neurology · 2024Article
- The genotype-phenotype correlations of theFrontiers in molecular neuroscience · 2023Article
- Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.American journal of medical genetics. Part A · 2022Review
- Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients.Orphanet journal of rare diseases · 2021Article
- An elongated tract of polyQ in the carboxyl‑terminus of human α1A calcium channel induces cell apoptosis by nuclear translocation.Oncology reports · 2020Article
- Genetic variations associated with pharmacoresistant epilepsy (Review).Molecular medicine reports · 2020Review
- Phenotypic Characterization of Larval Zebrafish (Danio rerio) with Partial Knockdown of the cacna1a Gene.Molecular neurobiology · 2020Article
- A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies.Epilepsy currents · 2020Article
- Paroxysmal Movement Disorders: Recent Advances.Current neurology and neuroscience reports · 2019Review
- A mutation in CaThe Journal of general physiology · 2019Article
- Correlations of Calcium Voltage-Gated Channel Subunit Alpha1 A (CACNA1A) Gene Polymorphisms with Benign Paroxysmal Positional Vertigo.Medical science monitor : international medical journal of experimental and clinical research · 2019Article
- Response to the paper titled "Identification of a novelNeuropsychiatric disease and treatment · 2018Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundProgressive myoclonic epilepsy (PME) is a heterogeneous neurodegenerative disorder, which is commonly manifested with refractory seizures and neurologic deterioration. The prognosis of PME is poor, so early diagnosis of PME is critical. The aim of our study is to identify the novel pathogenic gene in a Chinese family with PME, which may be helpful in future. SUBJECTS AND
methodsA three-generation consanguineous Chinese Han family with PME was recruited. A novel homozygous variant was identified by the genetic technique of exome sequencing and certificated by Sanger sequencing and functional prediction.
resultsA novel homozygous variant, c.6975_6976insCAG, in the CACNA1A was identified in the PME family. The novel variant encoding the alpha-1A subunit of the calcium channel Cav2.1 was found in two siblings in the Chinese family and was absent in 50 normal controls. Our research indicates that the homozygous c.6975_6976insCAG might be the pathogenic mutation for PME.
conclusionAs a molecular diagnostic strategy, our research explores the mutation gene spectrum of PME and has resulted in significant predictions for genetic counseling.
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