ReviewCurrent neurology and neuroscience reports2020
Genetics of Epileptic Networks: from Focal to Generalized Genetic Epilepsies.
Review in Current neurology and neuroscience reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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
5 citing papers in PubMed, 17 citations in OpenAlex.
- Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing.Journal of human genetics · 2024Article
- The metabolic basis of epilepsy.Nature reviews. Neurology · 2022Review
- 4E-BP2-dependent translation in parvalbumin neurons controls epileptic seizure threshold.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Increased facial asymmetry in focal epilepsies associated with unilateral lesions.Brain communications · 2021Article
- Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.Brain communications · 2021Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewSeizures can arise in neocortical, thalamocortical, limbic or brainstem networks. Here, we review recent genetic mechanisms implicated in focal and genetic generalized epilepsies (GGEs). RECENT
findingsPathogenic variation in GAP activity toward RAGs 1 (GATOR1) complex genes (i.e., DEPDC5, NPRL2 and NPRL3) mainly result in focal epilepsies. They are associated with high rates of sudden unexpected death in epilepsy and malformations of cortical development (MCD), where "two-hits" in GATOR1-related pathways are also found in MCDs. Large-scale sequencing studies continue to reveal new genetic risk (germline or somatic) variants, and new genes relevant to epileptic encephalopathies (EEs). Genes previously associated with EEs, including GABA
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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.