Evidence map›Paper›PMID 22341965›Full record

ReviewEpilepsy & behavior : E&B2012

SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome.

Alex C Bender, Richard P Morse, Rod C Scott, Gregory L Holmes, Pierre-Pascal Lenck-Santini

Abstract readReview
In one paragraph

Review in Epilepsy & behavior : E&B, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

61 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Prime editing of a pathogenicScience translational medicine · 2026
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1 more citing papers are in PubMed but not listed here.

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

5 authors.

Alex C BenderDepartment of Neurology, Neuroscience Center at Dartmouth, Dartmouth Medical School, Hanover, NH 03756, USA. Alex.C.Bender@Dartmouth.edu
Richard P Morse
Rod C Scott
Gregory L Holmes
Pierre-Pascal Lenck-Santini

Funding

Mechanisms of cognitive deficits after seizures in rats with brain malformationsR01NS075249 · NINDS · UNIVERSITY OF VERMONT & ST AGRIC COLLEGE · PI SCOTT, RODNEY CRAIG · 2011 to 2015
$1.7M
Physiological mechanisms responsible for cognitive impairments in Dravet SyndromeR01NS076763 · NINDS · UNIVERSITY OF VERMONT & ST AGRIC COLLEGE · PI LENCK-SANTINI, PIERRE PASCAL · 2012 to 2016
$1.7M
Mechanisms of Cognitive Impairment in Temporal Lobe EpilepsyR01NS074450 · NINDS · DARTMOUTH COLLEGE · PI HOLMES, GREGORY L., JOBST, BARBARA · 2011 to 2015
$1.7M
Mechanisms of Cognitive Impairment Following Early-Life SeizuresR01NS073083 · NINDS · UNIVERSITY OF VERMONT & ST AGRIC COLLEGE · PI HOLMES, GREGORY L. · 2011 to 2015
$1.6M
Neurophysiological mechanisms of cognitive impairment in Severe Myoclonic EpilepsF31NS077537 · NINDS · DARTMOUTH COLLEGE · PI BENDER, ALEX COLBATH · 2011 to 2013
$116k
NINDS NIH HHS F31 NS077537NINDS NIH HHS F31NS077537-01NINDS NIH HHS NS073083NINDS NIH HHS NS074450NINDS NIH HHS R01 NS073083NINDS NIH HHS R01 NS074450NINDS NIH HHS R01 NS075249NINDS NIH HHS R01 NS076763
6 · The paper itself

Abstract

Dravet syndrome (DS) is a childhood disorder associated with loss-of-function mutations in SCN1A and is characterized by frequent seizures and severe cognitive impairment. Animal studies have revealed new insights into the mechanisms by which mutations in this gene, encoding the type I voltage-gated sodium channel (Na(v)1.1), may lead to seizure activity and cognitive dysfunction. In this review, we further consider the function of fast-spiking GABAergic neurons, one cell type particularly affected by these mutations, in the context of the temporal coordination of neural activity subserving cognitive functions. We hypothesize that disruptions in GABAergic firing may directly contribute to the poor cognitive outcomes in children with DS, and discuss the therapeutic implications of this possibility.

Indexed as

Epilepsies, MyoclonicAction PotentialsCognition DisordersGABAergic NeuronsHumansMutationNAV1.1 Voltage-Gated Sodium ChannelNerve Tissue ProteinsNeural PathwaysSodium ChannelsNAV1.1 Voltage-Gated Sodium ChannelNerve Tissue ProteinsSCN1A protein, humanSodium Channels

Identifiers

PMID22341965
PMCPMC3307886

What OpenQuestion holds

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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.