Trial reportHuman genetics2015
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Trial report in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.International journal of molecular sciences · 2023Pooled it
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.American journal of human genetics · 2017Pooled it
- NovelHuman mutation · 2026Article
- Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review.Developmental medicine and child neurology · 2025Article
- Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.Communications biology · 2025Article
- ALG13-Related Epilepsy: Current Insights and Future Research Directions.Neurochemical research · 2024Review
- Voltage-gated calcium channels in genetic epilepsies.Journal of neurochemistry · 2024Review
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.Molecular genetics & genomic medicine · 2024Article
- ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.Molecular genetics and metabolism · 2024Review
- Effective treatment of NR2F1-related epilepsy with perampanel.Acta epileptologica · 2024Article
- D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Article
- Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability.CNS neuroscience & therapeutics · 2023Article
- Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in theNeurology · 2023Article
- Pathophysiological Roles of Auxiliary Calcium Channel αHandbook of experimental pharmacology · 2023Article
- Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.Brain : a journal of neurology · 2022Article
- A New Family with a NovelMolecular syndromology · 2022Article
- Review
- Antiseizure medication in early nervous system development. Ion channels and synaptic proteins as principal targets.Frontiers in pharmacology · 2022Review
- Case Report: Identification of Two Variants ofFrontiers in genetics · 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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
West syndrome, which is narrowly defined as infantile spasms that occur in clusters and hypsarrhythmia on EEG, is the most common early-onset epileptic encephalopathy (EOEE). Patients with West syndrome may have clear etiologies, including perinatal events, infections, gross chromosomal abnormalities, or cases followed by other EOEEs. However, the genetic etiology of most cases of West syndrome remains unexplained. DNA from 18 patients with unexplained West syndrome was subjected to microarray-based comparative genomic hybridization (array CGH), followed by trio-based whole-exome sequencing in 14 unsolved families. We identified candidate pathogenic variants in 50% of the patients (n = 9/18). The array CGH revealed candidate pathogenic copy number variations in four cases (22%, 4/18), including an Xq28 duplication, a 16p11.2 deletion, a 16p13.1 deletion and a 19p13.2 deletion disrupting CACNA1A. Whole-exome sequencing identified candidate mutations in known epilepsy genes in five cases (36%, 5/14). Three candidate de novo mutations were identified in three cases, with two mutations occurring in two new candidate genes (NR2F1 and CACNA2D1) (21%, 3/14). Hemizygous candidate mutations in ALG13 and BRWD3 were identified in the other two cases (14%, 2/14). Evaluating a panel of 67 known EOEE genes failed to identify significant mutations. Despite the heterogeneity of unexplained West syndrome, the combination of array CGH and whole-exome sequencing is an effective means of evaluating the genetic background in unexplained West syndrome. We provide additional evidence for NR2F1 as a causative gene and for CACNA2D1 and BRWD3 as candidate genes for West syndrome.
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