Evidence map›Paper›PMID 32899446›Full record

ReviewInternational journal of molecular sciences2020

Episodic Ataxias: Faux or Real?

Paola Giunti, Elide Mantuano, Marina Frontali

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 23% 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, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023
    Pooled it
  2. Case report: Episodic ataxia without ataxia?Frontiers in neurology · 2023
    Article
  3. Article
  4. Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.Cold Spring Harbor molecular case studies · 2022
    Article
  5. Article
  6. 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

3 authors at 2 institutions in 2 countries.

Paola GiuntiLaboratory of Neurogenetics, Department of Molecular Neuroscience, UCL Institute of Neurology, London WC2N 5DU, UK.
Elide MantuanoLaboratory of Neurogenetics, Institute of Translational Pharmacology, National Research Council of Italy, 00133 Rome, Italy.ORCID 0000-0003-1656-5543
Marina FrontaliLaboratory of Neurogenetics, Institute of Translational Pharmacology, National Research Council of Italy, 00133 Rome, Italy.ORCID 0000-0001-8671-7958
Istituto di Farmacologia Traslazionale · ITUniversity College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The term Episodic Ataxias (EA) was originally used for a few autosomal dominant diseases, characterized by attacks of cerebellar dysfunction of variable duration and frequency, often accompanied by other ictal and interictal signs. The original group subsequently grew to include other very rare EAs, frequently reported in single families, for some of which no responsible gene was found. The clinical spectrum of these diseases has been enormously amplified over time. In addition, episodes of ataxia have been described as phenotypic variants in the context of several different disorders. The whole group is somewhat confused, since a strong evidence linking the mutation to a given phenotype has not always been established. In this review we will collect and examine all instances of ataxia episodes reported so far, emphasizing those for which the pathophysiology and the clinical spectrum is best defined.

Indexed as

AtaxiaCalcium ChannelsCerebellar AtaxiaExcitatory Amino Acid Transporter 1HumansIon ChannelsKv1.1 Potassium ChannelNAV1.2 Voltage-Gated Sodium ChannelCalcium ChannelsExcitatory Amino Acid Transporter 1Ion ChannelsKv1.1 Potassium ChannelNAV1.2 Voltage-Gated Sodium ChannelCACNA1Achannelopathiesepisodic ataxiaFGF14KCNA1PRRT2SCN2ASLC1A3SLCA1

Identifiers

PMID32899446
PMCPMC7555854
OpenAlexW3083474719

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.