Evidence map›Paper›PMID 22618127›Full record

ReviewCurrent neurology and neuroscience reports2012

Genetics of epilepsy and relevance to current practice.

Roberto Michelucci, Elena Pasini, Patrizia Riguzzi, Lilia Volpi, Emanuela Dazzo, Carlo Nobile

Abstract readReview
PubMed Publisher
In one paragraph

Review in Current neurology and neuroscience reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
3.0field-weighted citation impact, top 9% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
  2. Review
  3. A bouquet of DNA structures: Emerging diversity.Biochemistry and biophysics reports · 2016
    Review
  4. Expanding the Phenotype and Genetic Defects Associated with theMovement disorders clinical practice · 2015
    Article
  5. Seizures and epilepsy: an overview for neuroscientists.Cold Spring Harbor perspectives in medicine · 2015
    Review
  6. Profile of epilepsy in a regional hospital in Al qassim, saudi arabia.International journal of health sciences · 2014
    Article
  7. Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?Mammalian genome : official journal of the International Mammalian Genome Society · 2014
    Article
  8. Article
  9. Generalized epilepsy in a patient with myotonic dystrophy type 2.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2014
    Article
  10. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Roberto MichelucciUnit of Neurology, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Via Altura 3, 40139, Bologna, Italy. roberto.michelucci@ausl.bo.it
Elena Pasini
Patrizia Riguzzi
Lilia Volpi
Emanuela Dazzo
Carlo Nobile
Ospedale Bellaria · ITNeuroscience Institute · ITInstitute of Neurological Sciences · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic factors are likely to play a major role in many epileptic conditions, spanning from classical idiopathic (genetic) generalized epilepsies to epileptic encephalopathies and focal epilepsies. In this review we describe the genetic advances in progressive myoclonus epilepsies, which are strictly monogenic disorders, genetic generalized epilepsies, mostly exhibiting complex genetic inheritance, and SCN1A-related phenotypes, namely genetic generalized epilepsy with febrile seizure plus and Dravet syndrome. Particular attention is devoted to a form of familial focal epilepsies, autosomal-dominant lateral temporal epilepsy, which is a model of non-ion genetic epilepsies. This condition is associated with mutations of the LGI1 gene, whose protein is secreted from the neurons and exerts its action on a number of targets, influencing cortical development and neuronal maturation.

Indexed as

AnimalsEpilepsyGenes, DominantHumansMutationPhenotype

Identifiers

PMID22618127
OpenAlexW2059677763

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.