ArticleInternational journal of molecular sciences2021
Refining Genotypes and Phenotypes in
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In one paragraph
Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 10% 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
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Targeted Sequencing and Haplotype Analysis of Voltage-Gated Potassium Channel Genes Reveal a Potential Association ofPharmaceuticals (Basel, Switzerland) · 2026Article
- Movement Disorders in Developmental and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans.The Journal of physiology · 2026Article
- Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.Human genomics · 2026Article
- Cvill6 and Cvill7: Potent and Selective Peptide Blockers of Kv1.2 Ion Channel Isolated from Mexican ScorpionToxins · 2025Article
- Targeting heterozygous dominant negative variant ofMolecular therapy. Nucleic acids · 2024Article
- Clinical trials for Lennox-Gastaut syndrome: Challenges and priorities.Annals of clinical and translational neurology · 2024Review
- Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Potassium channel-related epilepsy: Pathogenesis and clinical features.Epilepsia open · 2024Review
- Molecular dissection of an immunodominant epitope in KFrontiers in immunology · 2024Article
- Genetic Background of Epilepsy and Antiepileptic Treatments.International journal of molecular sciences · 2023Review
- A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Scientific reports · 2023Article
- Network-Based Data Analysis Reveals Ion Channel-Related Gene Features in COVID-19: A Bioinformatic Approach.Biochemical genetics · 2023Article
- A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Research square · 2023Article
- Developmental and epileptic encephalopathies - therapeutic consequences of genetic testing.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.International journal of molecular sciences · 2022Article
- An epilepsy-associated KProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners.International journal of molecular sciences · 2022Review
- Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.Nature communications · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 8 institutions in 3 countries.
Jan H DöringDivision of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Julian SchröterDivision of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0000-0003-4231-887X
Jerome JünglingPraxis für Humangenetik Tübingen, 72076 Tuebingen, Germany.
Saskia BiskupPraxis für Humangenetik Tübingen, 72076 Tuebingen, Germany.
Kerstin A KlotzDepartment of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.ORCID 0000-0002-1601-5384
Thomas BastMedical Faculty, University Hospital Freiburg, 79085 Freiburg, Germany.
Tobias DietelEpilepsy Center Kork, Medical Faculty of the University of Freiburg, 77694 Kehl, Germany.
G Christoph KorenkeDepartment of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, 26133 Oldenburg, Germany.
Sophie ChristophDepartment of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, 26133 Oldenburg, Germany.
Heiko BrennenstuhlDivision of Paediatric Neurology and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital, 69120 Heidelberg, Germany.ORCID 0000-0002-6909-0003
Guido RubboliDanish Epilepsy Centre, 4293 Dianalund, Denmark.
Rikke S MøllerDanish Epilepsy Centre, 4293 Dianalund, Denmark.ORCID 0000-0002-9664-1448
Gaetan LescaDepartment of Medical Genetics, Lyon University Hospital, University of Lyon, 69100 Lyon, France.
Yves ChaixPediatric Neurology Unit, Children's Hospital, Purpan University Hospital, 31300 Toulouse, France.
Stefan KölkerDivision of Paediatric Neurology and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital, 69120 Heidelberg, Germany.
Georg F HoffmannDivision of Paediatric Neurology and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital, 69120 Heidelberg, Germany.ORCID 0000-0002-6593-896X
Johannes R LemkeInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.ORCID 0000-0002-4435-6610
Steffen SyrbeDivision of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Heidelberg University · DEUniversity of Freiburg · DEKlinikum Oldenburg · DEPraxis für Humangenetik Tübingen · DEHôpital Purpan · FRLeipzig University · DEUniversité Claude Bernard Lyon 1 · FRUniversity of Southern Denmark · DK
Funding
Dietmar Hopp Stiftung 1DH1813319
Abstract
Pathogenic variants in
Indexed as
Databases, Nucleic AcidGenotypeKv1.2 Potassium ChannelMutation, MissenseNervous System DiseasesAmino Acid SubstitutionFemaleHumansMaleKCNA2 protein, humanKv1.2 Potassium Channelataxiaepilepsyepileptic encephalopathyKv1.2shakervoltage-gated potassium channel
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.