What type of study is this?

This is a Case Report study (also classified as: Literature Review).

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

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Case report reveals recurrent encephalopathy and microcephaly in a child, suggesting severe multisystem involvement.

Recurrent febrile encephalopathy was observed alongside microcephaly and organomegaly.
A novel homozygous missense variant in USP18 gene was identified through exome sequencing.
Observational analysis identified multiple clinical presentations including seizures and thrombocytopenia.
Further studies may clarify the broad range of manifestations associated with USP18-related disorders.

Gowda et al. (2025) studied this question.

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