ArticleJournal of child neurology2021
Boricua Founder Variant in
Article in Journal of child neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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.
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.
Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Movement Disorders in Developmental and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Article
- Genetics of epilepsy.Experimental biology and medicine (Maywood, N.J.) · 2026Review
- Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.Epilepsy currents · 2025Review
- Raising awareness of TBC1 domain-containing kinase (TBCK) epileptic encephalopathy among Puerto Rican children.Annals of the Child Neurology Society · 2023Article
- Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes.American journal of human genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 10 institutions in 2 countries.
Funding
Abstract
objectiveTo describe a founder mutation effect and the clinical phenotype of homozygous
backgroundEIEE-37 is caused by biallelic loss of function variants in the
methodsA retrospective, multicenter chart review of patients sharing the same homozygous
resultsFifteen patients from 12 different families of Puerto Rican ancestry were homozygous for the
conclusionsWe describe the largest cohort to date of patients with epileptic encephalopathy. We estimate that 0.76% of unaffected individuals of Puerto Rican ancestry carry this pathogenic variant due to a founder effect. Children homozygous for the
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.