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ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2020

A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease.

Yujiao Fu, Chaojun Zhou, Rui Song, Jinxin Peng, Xiaosu Yang, Bo Xiao, Jinxia Zhou, Hongyu Long

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In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 39% 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
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

8 authors at 2 institutions in 1 country.

Yujiao FuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
Chaojun ZhouDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
Rui SongDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
Jinxin PengDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
Xiaosu YangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
Bo XiaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
Jinxia ZhouDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China. 405782@csu.edu.cn.
Hongyu LongDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China. longhongyu@csu.edu.cn.
Xiangya Hospital Central South University · CNCentral South University · CN

Funding

Hunan Provincial Science and Technology Department 2019SK1012Young Scientists Fund 81701182
6 · The paper itself

Abstract

EPM2A has been certified as a causative gene in patients with Lafora disease (LD), which is a rare autosomal recessive and severe form of progressive myoclonus epilepsy. LD classically starts in adolescence, characterized by various types of seizure with myoclonic seizure as the main type. Typically within 10 years, intractable seizure attack, rapidly progressing dementia, and a vegetative state were present. LD is particularly frequently found in Mediterranean countries. Here, we report a Chinese family with a novel compound heterozygous mutation in the EPM2A gene, characterized by recurrent vomiting, intractable epilepsy, and progressive cognitive decline.

Indexed as

Lafora DiseaseAdolescentChinaHumansMaleMutationProtein Tyrosine Phosphatases, Non-ReceptorSeizuresUbiquitin-Protein LigasesEPM2A protein, humanProtein Tyrosine Phosphatases, Non-ReceptorUbiquitin-Protein LigasesChinese familyEPM2AHeterozygous mutationLafora diseaseProgressive myoclonic epilepsy

Identifiers

PMID32342326
OpenAlexW3017775626

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.