Metabolic mimicry of perioral myoclonia with absences: A signature of thalamocortical instability in childhood‐onset ornithine transcarbamylase deficiency

The authors declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. The data that support the findings of this study are available from the corresponding author upon reasonable request. Data S1 Data S2 Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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Publication Details

Journal
Epileptic Disorders
Published
2026-05-30
DOI
https://doi.org/10.1002/epd2.70296
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
0.00
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article

Metabolic mimicry of perioral myoclonia with absences: A signature of thalamocortical instability in childhood‐onset ornithine transcarbamylase deficiency

José Augusto Bragatti, Letícia Grigoletto
Epileptic Disorders
Glycogen Storage Diseases and Myoclonus
article

Metabolic mimicry of perioral myoclonia with absences: A signature of thalamocortical instability in childhood‐onset ornithine transcarbamylase deficiency

José Augusto Bragatti, Letícia Grigoletto
article en

Abstract

The authors declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. The data that support the findings of this study are available from the corresponding author upon reasonable request. Data S1 Data S2 Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Epileptic Disorders
Universidade Federal do Rio Grande do Sul (BR), Hospital de Clínicas de Porto Alegre (BR)
Openalex Percentile: Top 5%
Glycogen Storage Diseases and Myoclonus
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