USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review

To our knowledge, this is the first reported case of USP18-related disease presenting with recurrent febrile encephalopathy. Further studies are required to understand better the variable presentations associated with the disease.

Authors

Abby Varghese
Uddhava V. Kinhal
Devi Lal (ORCID: https://orcid.org/0000-0002-6480-4249)
Himani Pandey (ORCID: https://orcid.org/0000-0002-1243-4370)
Varunvenkat M. Srinivasan
VykuntarajuK Gowda

Institutions

University of Delhi (IN)
Institute of Child Health (IN)
Redcliffe Hospital (AU)
Indira Gandhi Institute of Child Health (IN)

Publication Details

Journal: Clinical Dysmorphology
Published: 2025-08-15
DOI: https://doi.org/10.1097/mcd.0000000000000538
Primary Topic: interferon and immune responses
Type: article
Field-Weighted Citation Impact: 0.00

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article

USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review

Abby Varghese, Uddhava V. Kinhal, Devi Lal, Himani Pandey et al.

Aug 15, 2025

Clinical Dysmorphology

interferon and immune responses

article

USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review

Abby Varghese, Uddhava V. Kinhal, Devi Lal, Himani Pandey, Varunvenkat M. Srinivasan, VykuntarajuK Gowda

August 15, 2025article en

Abstract

To our knowledge, this is the first reported case of USP18-related disease presenting with recurrent febrile encephalopathy. Further studies are required to understand better the variable presentations associated with the disease.

Clinical Dysmorphology

University of Delhi (IN), Institute of Child Health (IN), Redcliffe Hospital (AU), Indira Gandhi Institute of Child Health (IN)

Openalex Percentile: Top 65%

interferon and immune responses

DOI Source OpenAlex

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