ArticleBrain and behavior2019
Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy.
Article in Brain and behavior, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
9 citing papers in PubMed, 15 citations in OpenAlex.
- Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.Epilepsia open · 2024Article
- Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood.Epilepsia open · 2024Article
- Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.BMC medical genomics · 2022Article
- A rat model of a focal mosaic expression of PCDH19 replicates human brain developmental abnormalities and behaviours.Brain communications · 2022Article
- Epilepsy surgery in PCDH 19 related developmental and epileptic encephalopathy: A case report.Epilepsy & behavior reports · 2022Article
- [Early identification and diagnosis of epilepsy related to fever sensitivity].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021Article
- The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation.Frontiers in neurology · 2021Review
- A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.Molecular genetics & genomic medicine · 2020Article
- Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy.Brain and behavior · 2019Article
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 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPCDH19 has become the second most relevant gene in epilepsy after SCN1A. Seizures often provoked by fever.
methodsWe screened 152 children with fever-sensitive epilepsy for gene detection. Their clinical information was followed up.
resultsWe found eight PCDH19 point mutations (four novel and four reported) and one whole gene deletion in 10 female probands (seven sporadic cases and three family cases) who also had cluster seizures. The common clinical features of 16 patients in 10 families included fever-sensitive and cluster seizures, mainly focal or tonic-clonic seizures, and absence of status epilepticus, normal intelligence, or mild-to-moderate cognitive impairment, the onset age ranges from 5 months to 20 years. Only four patients had multiple or focal transient discharges in interictal EEG. Focal seizures originating in the frontal region were recorded in four patients, two from the parietal region, and one from the occipital region.
conclusionPCDH19 mutation can be inherited or de novo. The clinical spectrum of PCDH19 mutation includes PCDH19 Girls Clustering Epilepsy with or without mental retardation, psychosis, and asymptomatic male. The onset age of PCDH19 Girls Clustering Epilepsy can range from infancy to adulthood. Sisters in the same family may be sensitive to the same antiepileptic drugs. And our report expands the mutation spectrum of PCDH19 Girls Clustering Epilepsy.
Indexed as
Identifiers
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.