ArticleHuman mutation2018
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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
19 citing papers in PubMed, 45 citations in OpenAlex.
- Article
- Distinct neuronal mechanisms for motor impairment and seizures in a novel mouse model of SCN8A epileptic encephalopathy.Neurobiology of disease · 2026Article
- Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.Epilepsy currents · 2025Review
- Nontraditional Antiseizure Medications to Consider When Traditional Options Have Failed: Medications for Refractory Seizures and Epilepsies.The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG · 2025Article
- Differential encoding of mammalian proprioception by voltage-gated sodium channels.Science advances · 2025Article
- Differential encoding of mammalian proprioception by voltage-gated sodium channels.bioRxiv : the preprint server for biology · 2024Article
- The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list.Parkinsonism & related disorders · 2023Article
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.Brain : a journal of neurology · 2022Article
- Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies.Frontiers in neurology · 2022Review
- SCN8A Encephalopathy: Case Report and Literature Review.Neurology international · 2021Article
- Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.Journal of neurochemistry · 2021Review
- Sodium channelopathies in neurodevelopmental disorders.Nature reviews. Neuroscience · 2021Review
- Genetic Dystonias: Update on Classification and New Genetic Discoveries.Current neurology and neuroscience reports · 2021Review
- SCN8A encephalopathy: Mechanisms and models.Epilepsia · 2019Review
- Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.Epilepsia · 2019Article
- Prax330 reduces persistent and resurgent sodium channel currents and neuronal hyperexcitability of subiculum neurons in a mouse model of SCN8A epileptic encephalopathy.Neuropharmacology · 2019Article
- Paroxysmal Movement Disorders: Recent Advances.Current neurology and neuroscience reports · 2019Review
- Prominent role of forebrain excitatory neurons in SCN8A encephalopathy.Brain : a journal of neurology · 2019Article
- Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.Human mutation · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
Abstract
Variants in the neuronal sodium channel gene SCN8A have been implicated in several neurological disorders. Early infantile epileptic encephalopathy type 13 results from de novo gain-of-function mutations that alter the biophysical properties of the channel. Complete loss-of-function variants of SCN8A have been identified in cases of isolated intellectual disability. We now report a novel heterozygous SCN8A variant, p.Pro1719Arg, in a small pedigree with five family members affected with autosomal dominant upper limb isolated myoclonus without seizures or cognitive impairment. Functional analysis of the p.Pro1719Arg variant in transfected neuron-derived cells demonstrated greatly reduced Na
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.