Evidence map›Paper›PMID 39295819›Full record

ReviewTherapeutic advances in rare disease

A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop.

Margaret C Savage, Geraldine Bliss, Joseph D Buxbaum, Jordan S Farrell, April R Levin, Siddharth Srivastava, Elizabeth Berry-Kravis, J Lloyd Holder, Mustafa Sahin

Abstract readReview
In one paragraph

Review in Therapeutic advances in rare disease. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  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

9 authors.

Margaret C SavageDepartment of Neurology, Harvard Medical School, Boston, MA, USA.
Geraldine BlissCureSHANK, Beverly Hills, CA, USA.ORCID https://orcid.org/0000-0002-8552-9856
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jordan S FarrellDepartment of Neurology, Harvard Medical School, Boston, MA, USA.
April R LevinDepartment of Neurology, Harvard Medical School, Boston, MA, USA.
Siddharth SrivastavaDepartment of Neurology, Harvard Medical School, Boston, MA, USA.
Elizabeth Berry-KravisDepartments of Pediatrics, Neurological Sciences, Anatomy and Cell Biology, Rush Medical Center, Chicago, IL, USA.
J Lloyd HolderDepartment of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.
Mustafa SahinDepartment of Neurology, Harvard Medical School, Boston, MA, USA.ORCID https://orcid.org/0000-0001-7044-2953

Funding

Toward better characterization and clinical trial readiness for targeting neuropsychiatric manifestations in PTEN pathogenic variantsU54NS092090 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI M. Pilar Trelles · 2014 to 2026
$20.1M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
Dissecting Hypothalamic Pathways for Seizure ControlR00NS126725 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Jordan Stewart Farrell · 2024 to 2026
$740k
NICHD NIH HHS P50 HD105351NINDS NIH HHS R00 NS126725NINDS NIH HHS U54 NS092090
6 · The paper itself

Abstract

On September 27, 2023, the CureSHANK nonprofit foundation sponsored a conference in Boston, Massachusetts, to identify gaps in knowledge surrounding SHANK3-related epilepsy with the goal of determining future research priorities and recommendations. In addition to patient families and members of the CureSHANK community, participants in the conference included a broad cross-section of preclinical and clinical researchers and clinicians with expertise in SHANK3-related epilepsy as well as representatives from the pharmaceutical industry. Here we summarize the outcomes from comprehensive premeeting deliberations and the final conference recommendations, including (1) gaps in knowledge related to clinical science, (2) gaps in knowledge related to preclinical science, and (3) research priorities moving forward.

Indexed as

autismepilepsymouse modelsPhelan-McDermid syndrome

Identifiers

PMID39295819
PMCPMC11409305

What Socratic holds

Textmetadata
LicenceCC BY-NC
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 Socratic graph.