Evidence map›Paper›PMID 39763636›Full record

ReviewNeurology. Genetics2025

A Longitudinal Exploration of

Donna Schaare, Laina Lusk, Alexis Karlin, Michael C Kaufman, Jan Magielski, Sara M Sarasua, Kendra Allison, Luigi Boccuto, Ingo Helbig

Abstract readReview
In one paragraph

Review in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. "Living with"Frontiers in neurology · 2024
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors.

Donna SchaarePh.D. Program in Healthcare Genetics and Genomics, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, SC.ORCID https://orcid.org/0000-0002-1132-3097
Laina LuskDivision of Neurology, Children's Hospital of Philadelphia, PA.
Alexis KarlinDivision of Neurology, Children's Hospital of Philadelphia, PA.
Michael C KaufmanDivision of Neurology, Children's Hospital of Philadelphia, PA.ORCID https://orcid.org/0000-0003-2718-296X
Jan MagielskiDivision of Neurology, Children's Hospital of Philadelphia, PA.
Sara M SarasuaPh.D. Program in Healthcare Genetics and Genomics, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, SC.ORCID https://orcid.org/0000-0002-1625-7404
Kendra AllisonSchool of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, SC; and.
Luigi BoccutoPh.D. Program in Healthcare Genetics and Genomics, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, SC.
Ingo HelbigDivision of Neurology, Children's Hospital of Philadelphia, PA.ORCID https://orcid.org/0000-0001-8486-0558

Funding

Subgroup delineation in genetic epilepsies and developmental brain disordersR01NS127830 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Ingo Helbig · 2023 to 2026
$2.8M
NINDS NIH HHS R01 NS127830
6 · The paper itself

Abstract

Background and Objectives: Since the initial description of Methods: We analyzed HM and seizure history from electronic medical records in individuals with Results: Our cohort involved 15 individuals between 3 and 29 years (163 patient years) and included 11 unique and 2 recurrent variants (p.R1349Q and p.V1393M; both n = 2). The age of first confirmed HM ranged from 14 months to 13 years (average 3 years). 25% of all HM events were severe (lasting >3 days), and 73% of individuals had at least 1 severe occurrence. Spacing of HM events ranged from 1 month to 14 years, and changes in HM severity over time showed increases or decreases of >2 severity levels in 12 of 122 events. Eight individuals had epilepsy, but severity of epilepsy was only weakly correlated with frequency and severity of HM events. While levetiracetam (n = 6) and acetazolamide (n = 5) were the most frequently used medications, they did not show efficacy in HM prevention or severity reduction. However, verapamil (risk differences [RD] 0.10, CI 0.05-0.15) and valproate (RD 0.08, CI 0.04-0.12) were associated with a modest prevention of HM, but not reduction in severity. Discussion: The longitudinal course of

Identifiers

PMID39763636
PMCPMC11702907

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.