ReviewTrends in neurosciences2018
Progress in Understanding and Treating SCN2A-Mediated Disorders.
Open access · greenAbstract readReview
In one paragraph
Review in Trends in neurosciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 193 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
193citing papers in PubMed, 2 pooled it
24.8field-weighted citation impact, top 1% of its field
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
193 citing papers in PubMed, 2 syntheses or guidelines pooled it, 333 citations in OpenAlex.
- Gene variant effects across sodium channelopathies predict function and guide precision therapy.Brain : a journal of neurology · 2022Pooled it
- Genetic polymorphisms in SCN2A are not associated with epilepsy risk and AEDs response: evidence from a meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Precision therapeutics for early onset epilepsy: Allele-selective antisense oligonucleotides for SCN2A-related epilepsy.Molecular therapy. Nucleic acids · 2026Article
- Functional and pharmacological characterization of theEpilepsy & behavior reports · 2026Article
- Nonsense-mediated decay influences position-dependent effects of SCN2A premature stop codons on neuronal excitability and behavior.Molecular psychiatry · 2026Article
- Drug-Refractory Dystonia: Benefits of Lamotrigine Therapy in a Case of SCN2A Epilepsy-Dyskinesia Syndrome.Movement disorders clinical practice · 2026Article
- Altered oligodendroglial cell development and increased myelination in SCN2A gain-of-function-linked epilepsy.Acta neuropathologica communications · 2026Article
- Epilepsy-associated SCN2A-L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids.Epilepsia · 2026Article
- Review
- Autism-associated SCN2A deficiency disrupts cortico-striatal circuitry in human brain assembloids.Neuron · 2026Article
- Gene therapy with doxycycline-controlled expression of human Kv1.1 reduces neuronal excitability and increases sociability ofbioRxiv : the preprint server for biology · 2026Article
- Review
- Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy.Acta neuropathologica · 2026Review
- Voltage-Gated Sodium Channel NaBiochemical genetics · 2026Article
- Scaling of Neuronal Growth and Excitability Through Separable mTORC1 and mTORC2 Pathways.bioRxiv : the preprint server for biology · 2026Article
- Genetic risk, antiseizure medications, and lifestyle factors in epilepsy-associated obesity and overweight.International journal of obesity (2005) · 2026Article
- Voltage-gated sodium channels in the nervous system: Molecular physiology to therapeutic interventions.Neural regeneration research · 2026Article
- Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model ofbioRxiv : the preprint server for biology · 2026Article
- Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.Epilepsia · 2026Article
- Review
133 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 14 institutions in 6 countries.
Stephan J SandersDepartment of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address: stephan.sanders@ucsf.edu.
Arthur J CampbellStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.
Jeffrey R CottrellStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.
Rikke S MollerThe Danish Epilepsy Centre, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Campusvej 55, 5230 Odense, Denmark.
Florence F WagnerStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.
Angie L AuldridgeFamilieSCN2a Foundation, P.O. Box 82, East Longmeadow, MA 01028, USA.
Raphael A BernierDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
William A CatterallDepartment of Pharmacology, University of Washington, Seattle, WA 98195-7280, USA.
Wendy K ChungSimons Foundation, New York, NY 10010, USA; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
James R EmpfieldXenon Pharmaceuticals Inc., 3650 Gilmore Way, Burnaby, BC V5G 4W8, Canada.
Alfred L GeorgeDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Joerg F HippRoche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
Omar KhwajaRoche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
Evangelos KiskinisDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Dennis LalStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.
Dheeraj MalhotraRoche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
John J MillichapDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Epilepsy Center and Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, IL 60611, USA; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Thomas S OtisSainsbury Wellcome Centre for Neural Circuits and Behaviour, University College London, 25 Howland Street, London W1T 4JG, UK.
Steven PetrouFlorey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC, Australia.
Geoffrey PittCardiovascular Research Institute, Weill Cornell Medical College, Cornell University, New York, NY 10065, USA.
Leah F SchustFamilieSCN2a Foundation, P.O. Box 82, East Longmeadow, MA 01028, USA.
Cora M TaylorGeisinger Health System, 100 North Academy Avenue, Danville, PA 17822, USA.
Jennifer TjernagelSimons Foundation, New York, NY 10010, USA.
John E SpiroSimons Foundation, New York, NY 10010, USA.
Kevin J BenderDepartment of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address: kevin.bender@ucsf.edu.
Broad Institute · USNorthwestern University · USRoche (Switzerland) · CHFamilieSCN2A Foundation · USSimons Foundation · USUniversity of California, San Francisco · USUniversity of Washington · USColumbia University · USCornell University · USFlorey Institute of Neuroscience and Mental Health · AUGeisinger Health System · USUniversity College London · GBUniversity of Southern Denmark · DKXenon Pharmaceuticals (Canada) · CA
Funding
Intellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GARDEN, GWENN A · 2014 to 2019
$7.9MPhenotypic Characterization of Gene Disrupting Mutations in ASDR01MH100047 · NIMH · UNIVERSITY OF WASHINGTON · PI BERNIER, RAPHAEL A · 2014 to 2018
$2.1MNICHD NIH HHS U54 HD083091NIMH NIH HHS R01 MH100047
Abstract
Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability. SCN2A encodes the neuronal sodium channel Na
Indexed as
AnimalsHumansNAV1.2 Voltage-Gated Sodium ChannelNeurodevelopmental DisordersNAV1.2 Voltage-Gated Sodium ChannelSCN2A protein, humanautism spectrum disorderdevelopmental delayepilepsyintellectual disabilityNa(V)1.2neurodevelopmentneurodevelopmental disordersodium channel
Identifiers
What OpenQuestion holds
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Read underepoch 390
Registered trials
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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.