Evidence map›Paper›PMID 35633486›Full record

ReviewCNS drugs2022

CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.

William Hong, Isabel Haviland, Elia Pestana-Knight, Judith L Weisenberg, Scott Demarest, Eric D Marsh, Heather E Olson

Open access · greenAbstract readReview
In one paragraph

Review in CNS drugs, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed, 1 pooled it
5.8field-weighted citation impact, top 3% 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

27 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.

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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

7 authors at 5 institutions in 1 country.

William HongDivision of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA.
Isabel HavilandDivision of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA.ORCID 0000-0001-6719-6368
Elia Pestana-KnightEpilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.ORCID 0000-0001-9068-4167
Judith L WeisenbergDepartment of Pediatric Neurology, Washington University School of Medicine, St. Louis, MO, USA.
Scott DemarestSchool of Medicine, Children's Hospital Colorado, University of Colorado, Aurora, CO, USA.
Eric D MarshDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Heather E OlsonDivision of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA. Heather.Olson@childrens.harvard.edu.ORCID 0000-0002-5385-0119
Boston Children's Hospital · USChildren's Hospital Colorado · USChildren's Hospital of Philadelphia · USCleveland Clinic · USWashington University in St. Louis · US

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
Multi-Site Validation of Biomarkers and Core Clinical Outcome Measures for Clinical Trials Readiness in CDKL5 Deficiency DisorderU01NS114312 · NINDS · UNIVERSITY OF COLORADO DENVER · PI BENKE, TIMOTHY A, DOWNS, JENNY · 2021 to 2025
$4.7M
Diagnosis and Genotype-Phenotype Correlations in Early Life Epilepsy and CDKL5 DisorderK23NS107646 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI OLSON, HEATHER ELISA · 2018 to 2023
$1.2M
NICHD NIH HHS P50 HD105351NINDS NIH HHS K23 NS107646NINDS NIH HHS U01 NS114312
6 · The paper itself

Abstract

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy with infantile-onset epilepsy. Most individuals with CDD develop refractory epilepsy with multiple seizure types. Management of seizures in CDD remains challenging for clinicians given the highly refractory nature of seizures and the limited number of disease-specific studies that offer a high level of evidence. Epileptic spasms are the most common seizure type in CDD and are more often refractory to standard first-line treatment than are spasms of other etiologies. In other seizure types, the effectiveness of antiseizure medications is limited and wanes over time. Ketogenic diet and palliative surgical treatments have both had mixed results in observational studies. When treating refractory seizures in CDD, we recommend carefully balancing seizure control and treatment-related side effects to optimize each individual's overall quality of life. Clinical trials of medications targeting epilepsy in CDD have been conducted, and additional investigational small molecules, gene therapy, and other disease-modifying therapies are in development for CDD.

Indexed as

EpilepsySpasms, InfantileEpileptic SyndromesHumansProtein Serine-Threonine KinasesQuality of LifeSeizuresSpasmCDKL5 protein, humanProtein Serine-Threonine Kinases

Identifiers

PMID35633486
PMCPMC9876658
OpenAlexW4281732229

What Socratic holds

Textmetadata
LicenceTDM
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.