ReviewEuropean journal of medical genetics2012
Clinical review of genetic epileptic encephalopathies.
Review in European journal of medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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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.
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.
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Who cites it
16 citing papers in PubMed, 52 citations in OpenAlex.
- Psychiatric disorders and intellectual disability impact epilepsy care in adolescents: A nationwide registry study.Epilepsia open · 2026Article
- Cenobamate for Difficult-to-Treat Epilepsy - Selected Case Vignettes.Neuropsychiatric disease and treatment · 2025Article
- Type 1 early infantile epileptic encephalopathy: A case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Unraveling the propensity of various genetic disorders and syndromes in the Koraga, an aboriginal tribe from southern India.Journal of biosciences · 2024Article
- Towards Zebrafish Models of CNS Channelopathies.International journal of molecular sciences · 2022Review
- Liquid biopsies in epilepsy: biomarkers for etiology, diagnosis, prognosis, and therapeutics.Human cell · 2022Review
- Syndromic and non-syndromic etiologies causing neonatal hypocalcemic seizures.Frontiers in endocrinology · 2022Article
- A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.Journal of personalized medicine · 2020Article
- The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.Journal of clinical medicine · 2020Article
- Tiered analysis of whole-exome sequencing for epilepsy diagnosis.Molecular genetics and genomics : MGG · 2020Article
- Proteomic change by Korean Red Ginseng in the substantia nigra of a Parkinson's disease mouse model.Journal of ginseng research · 2018Article
- Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.NPJ genomic medicine · 2018Article
- Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Indian journal of pediatrics · 2016Review
- Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.Nature communications · 2014Article
- Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.American journal of human genetics · 2013Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Seizures are a frequently encountered finding in patients seen for clinical genetics evaluations. The differential diagnosis for the cause of seizures is quite diverse and complex, and more than half of all epilepsies have been attributed to a genetic cause. Given the complexity of such evaluations, we highlight the more common causes of genetic epileptic encephalopathies and emphasize the usefulness of recent technological advances. The purpose of this review is to serve as a practical guide for clinical geneticists in the evaluation and counseling of patients with genetic epileptic encephalopathies. Common syndromes will be discussed, in addition to specific seizure phenotypes, many of which are refractory to anti-epileptic agents. Divided by etiology, we overview the more common causes of infantile epileptic encephalopathies, channelopathies, syndromic, metabolic, and chromosomal entities. For each condition, we will outline the diagnostic evaluation and discuss effective treatment strategies that should be considered.
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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.