Evidence map›Paper›PMID 33735526›Full record

ArticleEpilepsia2021

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.

Jenna C Carpenter, Roope Männikkö, Catherine Heffner, Jana Heneine, Marisol Sampedro-Castañeda, Gabriele Lignani, Stephanie Schorge

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Epilepsia, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

6 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Gene Editing and Modulation: the Holy Grail for the Genetic Epilepsies?Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021
    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

7 authors at 2 institutions in 1 country.

Jenna C CarpenterDepartment of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, UK.
Roope MännikköDepartment of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK.
Catherine HeffnerDepartment of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, UK.
Jana HeneineDepartment of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, UK.
Marisol Sampedro-CastañedaDepartment of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, UK.
Gabriele LignaniDepartment of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-3963-9296
Stephanie SchorgeDepartment of Pharmacology, University College London School of Pharmacy, London, UK.ORCID 0000-0003-1541-5148
National Hospital for Neurology and Neurosurgery · GBUniversity College London · GB

Funding

Medical Research Council MR/S011005/1Medical Research Council MR/V034758/1Wellcome TrustWellcome Trust 104033/Z/14/Z
6 · The paper itself

Abstract

objectiveMutations in KCNC1 can cause severe neurological dysfunction, including intellectual disability, epilepsy, and ataxia. The Arg320His variant, which occurs in the voltage-sensing domain of the channel, causes a highly penetrant and specific form of progressive myoclonus epilepsy with severe ataxia, designated myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). KCNC1 encodes the voltage-gated potassium channel K

methodsTo determine how this variant triggers MEAK, we expressed K

resultsExpression of the K SIGNIFICANCE: Overall, our data suggest that, in addition to the regulation of high-frequency firing, K

Indexed as

AnimalsDendritesHumansInterneuronsMiceMice, Inbred C57BLMutationMyoclonic Epilepsies, ProgressiveNeurogenesisShaw Potassium ChannelsKCNC1 protein, humanShaw Potassium ChannelsdendritesdendritopathydevelopmentKCNC1KV3.1MEAKpotassium channelsprogressive myoclonic epilepsy

Identifiers

PMID33735526
PMCPMC8436768
OpenAlexW3139017373

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.