Evidence map›Paper›PMID 30849329›Full record

ArticleAmerican journal of human genetics2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, Ivana A Souza, Candace T Myers, Betül Uysal, Niklas Schwarz, Maria A Gandini, Sun Huang, Boris Keren and 96 more

Abstract readPublished Erratum
In one paragraph

Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

106 authors.

Katherine L Helbig
Robert J Lauerer
Jacqueline C Bahr
Ivana A Souza
Candace T Myers
Betül Uysal
Niklas Schwarz
Maria A Gandini
Sun Huang
Boris Keren
Cyril Mignot
Alexandra Afenjar
Thierry Billette de Villemeur
Delphine Héron
Caroline Nava
Stéphanie Valence
Julien Buratti
Christina R Fagerberg
Kristina P Soerensen
Maria Kibaek
Erik-Jan Kamsteeg
David A Koolen
Boudewijn Gunning
H Jurgen Schelhaas
Michael C Kruer
Jordana Fox
Somayeh Bakhtiari
Randa Jarrar
Sergio Padilla-Lopez
Kristin Lindstrom
Sheng Chih Jin
Xue Zeng
Kaya Bilguvar
Antigone Papavasileiou
Qinghe Xing
Changlian Zhu
Katja Boysen
Filippo Vairo
Brendan C Lanpher
Eric W Klee
Jan-Mendelt Tillema
Eric T Payne
Margot A Cousin
Teresa M Kruisselbrink
Myra J Wick
Joshua Baker
Eric Haan
Nicholas Smith
Azita Sadeghpour
Erica E Davis
Nicholas Katsanis
Task Force for Neonatal Genomics
Mark A Corbett
Alastair H MacLennan
Jozef Gecz
Saskia Biskup
Eva Goldmann
Lance H Rodan
Elizabeth Kichula
Eric Segal
Kelly E Jackson
Alexander Asamoah
David Dimmock
Julie McCarrier
Lorenzo D Botto
Francis Filloux
Tatiana Tvrdik
Gregory D Cascino
Sherry Klingerman
Catherine Neumann
Raymond Wang
Jessie C Jacobsen
Melinda A Nolan
Russell G Snell
Klaus Lehnert
Lynette G Sadleir
Britt-Marie Anderlid
Malin Kvarnung
Renzo Guerrini
Michael J Friez
Michael J Lyons
Jennifer Leonhard
Gabriel Kringlen
Kari Casas
Christelle M El Achkar
Lacey A Smith
Alexander Rotenberg
Annapurna Poduri
Alba Sanchis-Juan
Keren J Carss
Julia Rankin
Adam Zeman
F Lucy Raymond
Moira Blyth
Bronwyn Kerr
Karla Ruiz
Jill Urquhart
Imelda Hughes
Siddharth Banka
Deciphering Developmental Disorders Study
Ulrike B S Hedrich
Ingrid E Scheffer
Ingo Helbig
Gerald W Zamponi
Holger Lerche
Heather C Mefford

Funding

Intellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 2014 to 2019
$7.9M
A Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9M
NICHD NIH HHS U54 HD083091NINDS NIH HHS R01 NS069605
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID30849329
PMCPMC6407522

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.