ArticleHuman molecular genetics2015
SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 42 citations in OpenAlex.
- Essential Tremor Severity Assessment Using Handwriting Analysis and Machine Learning.Sensors (Basel, Switzerland) · 2025Article
- GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.Orphanet journal of rare diseases · 2025Article
- Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.Epilepsia open · 2024Article
- Association Analysis of 27 Single Nucleotide Polymorphisms in a Chinese Population with Essential Tremor.Journal of molecular neuroscience : MN · 2023Article
- Essential tremor.Nature reviews. Disease primers · 2021Review
- Polyunsaturated Fatty Acids Mediated Regulation of Membrane Biochemistry and Tumor Cell Membrane Integrity.Membranes · 2021Review
- Pharmacological and nutritional targeting of voltage-gated sodium channels in the treatment of cancers.iScience · 2021Review
- Exome-wide rare variant analysis in familial essential tremor.Parkinsonism & related disorders · 2021Article
- Rare variant analysis of essential tremor-associated genes in early-onset Parkinson's disease.Annals of clinical and translational neurology · 2021Article
- Analysis of Fine Motor Skills in Essential Tremor: Combining Neuroimaging and Handwriting Biomarkers for Early Management.Frontiers in human neuroscience · 2021Article
- Candidate variants in TUB are associated with familial tremor.PLoS genetics · 2020Article
- Changes of Resurgent NaInternational journal of molecular sciences · 2020Article
- Essential tremor pathology: neurodegeneration and reorganization of neuronal connections.Nature reviews. Neurology · 2020Review
- Current Opinions and Consensus for Studying Tremor in Animal Models.Cerebellum (London, England) · 2019Review
- Possible role ofEpilepsia open · 2019Article
- Article
- A Drosophila Model of Essential Tremor.Scientific reports · 2018Article
- Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.Frontiers in aging neuroscience · 2018Article
- A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome.Clinical genetics · 2018Article
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Authors and funding
11 authors at 7 institutions in 3 countries.
Funding
Abstract
Essential tremor (ET) is the most prevalent movement disorder, affecting millions of people in the USA. Although a positive family history is one of the most important risk factors for ET, the genetic causes of ET remain unknown. In an attempt to identify genetic causes for ET, we performed whole-exome sequencing analyses in a large Spanish family with ET, in which two patients also developed epilepsy. To further assess pathogenicity, site-directed mutagenesis, mouse and human brain expression analyses, and patch clamp techniques were performed. A disease-segregating mutation (p.Gly1537Ser) in the SCN4A gene was identified. Posterior functional analyses demonstrated that more rapid kinetics at near-threshold potentials altered ion selectivity and facilitated the conductance of both potassium and ammonium ions, which could contribute to tremor and increase susceptibility to epilepsy, respectively. In this report, for the first time, we associated the genetic variability of SCN4A with the development of essential tremor, which adds ET to the growing list of neurological channelopathies.
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