ArticleNeurology2017
Open access · hybridAbstract read
In one paragraph
Article in Neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 2 pooled it
4.8field-weighted citation impact, top 4% 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
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 109 citations in OpenAlex.
- Unraveling the enigma of new-onset refractory status epilepticus: a systematic review of aetiologies.European journal of neurology · 2022Pooled it
- Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.International journal of molecular sciences · 2021Pooled it
- High-fat diet-responsive DNM1 promotes hepatocellular carcinoma progression and predicts poor prognosis in viral-associated patients.American journal of cancer research · 2026Article
- Genetic medicines for epilepsy: unlocking new avenues for seizure control.Frontiers in bioengineering and biotechnology · 2026Review
- Modeling AP2M1 developmental and epileptic encephalopathy in Drosophila.Disease models & mechanisms · 2025Article
- Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy.Epilepsia · 2025Article
- Progressive Cone-Rod Synaptic Dysfunction in Dynamin-1 ( DNM1 ) Related Developmental and Epileptic Encephalopathy: A Distinct Retinal Phenotype in Human.Clinical genetics · 2025Article
- Gene discovery and pleiotropic architecture of chronic pain in a genome-wide association study of >1.2 million individuals.Research square · 2025Article
- Precision Therapeutics in Lennox-Gastaut Syndrome: Targeting Molecular Pathophysiology in a Developmental and Epileptic Encephalopathy.Children (Basel, Switzerland) · 2025Review
- Gene discovery and pleiotropic architecture of Chronic Pain in a Genome-wide Association Study of >1.2 million Individuals.medRxiv : the preprint server for health sciences · 2025Article
- Advances in genetic developmental and epileptic encephalopathies with movement disorders.Acta epileptologica · 2025Review
- Deep Brain Stimulation in Leigh-Like Syndrome Due to DNM1 Pathogenic Variant.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- Exploring the underlying molecular connections: a bioinformatics approach to link melanoma and Parkinson's disease.Frontiers in genetics · 2025Article
- Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.International journal of molecular sciences · 2024Review
- Clinical trials for Lennox-Gastaut syndrome: Challenges and priorities.Annals of clinical and translational neurology · 2024Review
- Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- The mechanism of mitochondrial autophagy regulating Clathrin-mediated endocytosis in epilepsy.Epilepsia open · 2024Article
- eIF2α phosphorylation evokes dystonia-like movements with D2-receptor and cholinergic origin and abnormal neuronal connectivity.bioRxiv : the preprint server for biology · 2024Article
- Spontaneous Remission of Epileptic Seizures Following Norovirus Infection in a Patient With DNM1 Encephalopathy.Cureus · 2024Article
- Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.Neurology · 2023Article
1 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
39 authors at 2 institutions in 2 countries.
Sarah von SpiczakAuthor affiliations are provided at the end of the article.
Katherine L HelbigAuthor affiliations are provided at the end of the article.
Deepali N ShindeAuthor affiliations are provided at the end of the article.
Robert HuetherAuthor affiliations are provided at the end of the article.
Manuela PendziwiatAuthor affiliations are provided at the end of the article.
Charles LourençoAuthor affiliations are provided at the end of the article.
Mark E NunesAuthor affiliations are provided at the end of the article.
Dean P SarcoAuthor affiliations are provided at the end of the article.
Richard A KaplanAuthor affiliations are provided at the end of the article.
Dennis J DlugosAuthor affiliations are provided at the end of the article.
Heidi KirschAuthor affiliations are provided at the end of the article.
Anne SlavotinekAuthor affiliations are provided at the end of the article.
Maria R CilioAuthor affiliations are provided at the end of the article.
Mackenzie C CervenkaAuthor affiliations are provided at the end of the article.
Julie S CohenAuthor affiliations are provided at the end of the article.
Rebecca McClellanAuthor affiliations are provided at the end of the article.
Ali FatemiAuthor affiliations are provided at the end of the article.
Amy YuenAuthor affiliations are provided at the end of the article.
Yoshimi SagawaAuthor affiliations are provided at the end of the article.
Rebecca LittlejohnAuthor affiliations are provided at the end of the article.
Scott D McLeanAuthor affiliations are provided at the end of the article.
Laura Hernandez-HernandezAuthor affiliations are provided at the end of the article.
Bridget MaherAuthor affiliations are provided at the end of the article.
Rikke S MøllerAuthor affiliations are provided at the end of the article.
Elizabeth PalmerAuthor affiliations are provided at the end of the article.
John A LawsonAuthor affiliations are provided at the end of the article.
Colleen A CampbellAuthor affiliations are provided at the end of the article.
Charuta N JoshiAuthor affiliations are provided at the end of the article.
Diana L KolbeAuthor affiliations are provided at the end of the article.
Georgie HollingsworthAuthor affiliations are provided at the end of the article.
Bernd A NeubauerAuthor affiliations are provided at the end of the article.
Hiltrud MuhleAuthor affiliations are provided at the end of the article.
Ulrich StephaniAuthor affiliations are provided at the end of the article.
Ingrid E SchefferAuthor affiliations are provided at the end of the article.
Sérgio D J PenaAuthor affiliations are provided at the end of the article.
Sanjay M SisodiyaAuthor affiliations are provided at the end of the article.
Ingo HelbigAuthor affiliations are provided at the end of the article. helbigi@email.chop.edu.
Epi4K Consortium
EuroEPINOMICS-RES NLES Working Group
School of the Art Institute of Chicago · USSchneider Electric (France) · FR
Funding
3 of 7 Epi4K: Sequencing, Biostatistics & Bioinformatics CoreU01NS077303 · NINDS · DUKE UNIVERSITY · PI EICHLER, EVAN, GOLDSTEIN, DAVID B. · 2011 to 2018
$13.3MClinGen Expert Curation Panel for the EpilepsiesU24NS120854 · NINDS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Ingo Helbig, HEATHER C. MEFFORD · 2021 to 2026
$2.0MNINDS NIH HHS U01 NS077303NINDS NIH HHS U24 NS120854Wellcome Trust
Abstract
objectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (
methodsWe reviewed phenotypic data of 21 patients (7 previously published) with
resultsWe identified 19 patients with de novo mutations in
conclusionsThe phenotypic spectrum of
Indexed as
MutationAdolescentBrain DiseasesChildChild, PreschoolCohort StudiesDNA Mutational AnalysisDynaminsFemaleGTP PhosphohydrolasesHomeodomain ProteinsHumansInfantMaleMicrotubule-Associated ProteinsMitochondrial ProteinsDNM1L protein, humanDynaminsGTP PhosphohydrolasesHomeodomain ProteinsMicrotubule-Associated ProteinsMitochondrial ProteinsShort Stature Homeobox ProteinSHOX protein, human
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
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.