ArticleEpilepsia open2020
Clinical and genetic characteristics of patients with Doose syndrome.
Article in Epilepsia open, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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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.
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Who cites it
7 citing papers in PubMed, 18 citations in OpenAlex.
- Epilepsy Phenotypic Spectrum of NUS1-Related Disorder: A Case Series.Annals of the Child Neurology Society · 2026Article
- Cognitive and behavioral performance in children with epilepsy with myoclonic-atonic seizures.Dementia & neuropsychologia · 2025Article
- Genetic mechanisms in generalized epilepsies.Acta epileptologica · 2023Review
- Parent-Reported Sleep Profile of Children With Early-Life Epilepsies.Pediatric neurology · 2022Article
- Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.Genome medicine · 2021Article
- Review
- Clinical and genetic characteristics of patients with Doose syndrome.Epilepsia open · 2020Article
Corrections and comments
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Authors and funding
33 authors at 20 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo elucidate the genetic background and genotype-phenotype correlations for epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy (MAE) or Doose syndrome.
methodsWe collected clinical information and blood samples from 29 patients with MAE. We performed whole-exome sequencing for all except one MAE case in whom custom capture sequencing identified a variant.
resultsWe newly identified four variants: SIGNIFICANCE: MAE patients had genetic heterogeneity, and
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