Evidence map›Paper›PMID 31993582›Full record

ArticleEpilepsy & behavior reports2020

Juvenile myoclonic epilepsy mimic associated with CHD2 gene mutation.

Neeraj Singh, Anthony Ritaccio

Erratum issuedOpen access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Epilepsy & behavior reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.4field-weighted citation impact, top 34% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors at 2 institutions in 1 country.

Neeraj SinghEpilepsy Division, Department of Neurology, Albany Medical Center, United States of America.
Anthony RitaccioDepartment of Neurology, Mayo Clinic Florida, United States of America.
Albany Medical Center Hospital · USMayo Clinic in Florida · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This paper reports the electroclinical manifestations of an epilepsy syndrome associated with a chromodomain helicase DNA-binding protein 2 (CHD2) gene mutation with clinical semiology and electroencephalographic (EEG) features consistent with juvenile myoclonic epilepsy (JME). Myoclonic and myoclonic-tonic-clonic seizures, as well as generalized 4- to 5-Hz high-amplitude spike-wave and polyspike-wave discharges, were well characterized in an adolescent. However, the atypical age of onset, developmental disability, and apparent drug resistance led to suspicion of an alternative etiology for epilepsy, subsequently verified as a CHD2 gene mutation. When atypical features are present, a JME mimic should be suspected in the differential diagnosis of the more established syndrome of JME.

Indexed as

Autism spectrum disorderCHD2CHD2, chromodomain helicase DNA-binding protein 2CLCN2, chloride channel protein 2ED, emergency departmentEEG, electroencephalogramEFHC1, EF-hand domain containing protein 1GABRA1, gamma-aminobutyric acid type A receptor alpha 1 subunitJMEJME, juvenile myoclonic epilepsyJuvenile myoclonic epilepsyTIGER, the Investigation of Genetic Exome ResearchWES, whole exome sequencing

Identifiers

PMID31993582
PMCPMC6976925
OpenAlexW2998763287

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.