ReviewJournal of neurology, neurosurgery, and psychiatry2016
Genetic neurological channelopathies: molecular genetics and clinical phenotypes.
Review in Journal of neurology, neurosurgery, and psychiatry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses 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
51 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Gene variant effects across sodium channelopathies predict function and guide precision therapy.Brain : a journal of neurology · 2022Pooled it
- An integrative methodology based on protein-protein interaction networks for identification and functional annotation of disease-relevant genes applied to channelopathies.BMC bioinformatics · 2019Pooled it
- Voltage-Gated Sodium Channel Dysfunction in Epilepsy: Zebrafish Models for Therapeutics.Biomedicines · 2025Review
- Voltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies.Cells · 2024Review
- Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy.Cell reports. Medicine · 2024Article
- Real-time multicompartment Hodgkin-Huxley neuron emulation on SoC FPGA.Frontiers in neuroscience · 2024Article
- Review
- De novo KCNA6 variants with attenuated KEpilepsia · 2023Article
- Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing TechniqueBalkan medical journal · 2023Article
- Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.Archives of Iranian medicine · 2022Article
- Towards Zebrafish Models of CNS Channelopathies.International journal of molecular sciences · 2022Review
- Hypokalaemia with Guillain-Barré syndrome: a diagnostic and therapeutic challenge.BMJ case reports · 2022Article
- The long exercise test as a functional marker of periodic paralysis.Muscle & nerve · 2022Article
- Controlling ion channel function with renewable recombinant antibodies.The Journal of physiology · 2022Review
- Familial episodic pain syndrome: a case report and literature review.Annals of translational medicine · 2022Article
- NovelFrontiers in genetics · 2022Article
- A new perspective of hypothalamic disease: Shapiro's syndrome.Frontiers in neurology · 2022Review
- Article
- Headache in people with epilepsy.Nature reviews. Neurology · 2021Review
- Pathophysiological Roles of Abnormal Axon Initial Segments in Neurodevelopmental Disorders.Cells · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact on almost any area of neurological practice. Typically, neurological channelopathies are inherited in an autosomal dominant fashion and cause paroxysmal disturbances of neurological function, although the impairment of function can become fixed with time. These disorders are individually rare, but an accurate diagnosis is important as it has genetic counselling and often treatment implications. Furthermore, the study of less common ion channel mutation-related diseases has increased our understanding of pathomechanisms that is relevant to common neurological diseases such as migraine and epilepsy. Here, we review the molecular genetic and clinical features of inherited neurological channelopathies.
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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.