ArticleJournal of medical genetics2020
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The trial behind it
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Who cites it
29 citing papers in PubMed, 53 citations in OpenAlex.
- Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans.The Journal of physiology · 2026Article
- From Selective Permeation to Physiology in Potassium Channels.Function (Oxford, England) · 2025Review
- Association of Voltage-Gated Potassium Channel Polymorphisms with the Risk and Prognosis of Epilepsy in the Saudi Population: A Case-Control Study.Medicina (Kaunas, Lithuania) · 2025Article
- In vitro human ion channel assays predictive of drug-induced seizure.Toxicological sciences : an official journal of the Society of Toxicology · 2025Article
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 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
- KCNA1 promotes the growth and invasion of glioblastoma cells through ferroptosis inhibition via upregulating SLC7A11.Cancer cell international · 2024Article
- Genetic Background of Epilepsy and Antiepileptic Treatments.International journal of molecular sciences · 2023Review
- ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.Genome medicine · 2023Article
- Genome-wide association study identified six loci associated with adverse drug reactions to aripiprazole in schizophrenia patients.Schizophrenia (Heidelberg, Germany) · 2023Article
- Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity ofInternational journal of molecular sciences · 2023Review
- De novo KCNA6 variants with attenuated KEpilepsia · 2023Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- Genetic Links to Episodic Movement Disorders: Current Insights.The application of clinical genetics · 2023Review
- 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
- Interictal Headache, Pseudodystonia, and Persistent Ataxia in Episodic Ataxia Type 1 Due to a Novel KCNA1 Gene Mutation.Movement disorders clinical practice · 2022Article
- Kcnq2/Kv7.2 controls the threshold and bi-hemispheric symmetry of cortical spreading depolarization.Brain : a journal of neurology · 2021Article
- Kv1.1 deficiency alters repetitive and social behaviors in mice and rescues autistic-like behaviors due to Scn2a haploinsufficiency.Brain and behavior · 2021Article
- Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation inBiomedicines · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSince 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been described with mutations in
methodsA patient presenting with a severe combination of dyskinesia and neonatal epileptic encephalopathy was sequenced by whole-exome sequencing (WES). A candidate variant was tested using cellular assays and patch-clamp recordings.
resultsWES revealed a homozygous variant (p.Val368Leu) in
conclusionThis newly identified variant is the first to be reported to act in a recessive mode of inheritance in
Indexed as
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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.