ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2012
Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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
5 citing papers in PubMed, 8 citations in OpenAlex.
- Self-Limited Focal Epilepsies in Childhood: How Many and How to Treat.Pediatric reports · 2026Review
- AFrontiers in genetics · 2026Article
- Article
- GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.Journal of translational medicine · 2024Review
- Febrile Seizures and Febrile Seizure Syndromes: An Updated Overview of Old and Current Knowledge.Neurology research international · 2015Review
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 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus (GEFS(+)) and their affected and some unaffected family members, coming from a restricted geographic area, was performed.
methodsEight GEFS(+) families (58 members) diagnosed according to current GEFS(+) criteria were studied.
resultsA heterozygous point mutation A2336G was detected in exon 13 of the SCNA1 gene in three affected members of one family but not in their unaffected relatives; a novel Ile1944Thr mutation was located within the intracellular C-terminal region of the SCNA1 gene in the proband and his healthy father in a second family. In the former family, the proband had dysmorphic features including large forehead, large nasal bridge, pointed nasal tip, triangular nostrils, deep nasolabial folds, thin upper lips with large mouth, congenital gingival hyperplasia with wide gingiva and mental retardation, abnormalities not previously listed in the clinical spectrum of GEFS(+).
conclusionsOur study confirms that just a few GEFS(+) families have mutations in the five genes classically known and reinforces the genetic and also the phenotypic variability of GEFS(+) featuring clinical manifestations. Question rises whether the cognitive problems seen in two siblings and dysmorphic features in one of them may be related to the channelopathy as it occurs in other well-known ion channel disorders.
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.