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February 20, 2026Epileptic DisordersOpen Access

Clinical vignette: Generalized epilepsy associated with TRMT1 mutation in two siblings

Nuria Lamagrande Casanova Mario Iglesias Rodríguez Valentina Ortiz‐Cabrera Elena González Alguacil Juan José García Peñas Rita Valero Pertegal Cristina Benítez Provedo Anna Duat Rodríguez Víctor Soto Insuga

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Key Points

To describe the clinical presentation of generalized epilepsy associated with a TRMT1 mutation in two siblings.
Clinical vignette analysis of two siblings with epilepsy.
Discussion of genetic testing results related to TRMT1 mutation.
Review of clinical symptoms and VEEG findings.
Both siblings exhibited generalized epilepsy symptoms and were found to have the same TRMT1 mutation.
VEEG recordings indicated abnormal electrical activity typical of generalized epilepsy.
The findings suggest a genetic basis for the epilepsy observed in both siblings.

Implication

A clinical vignette reveals generalized epilepsy linked to a TRMT1 mutation in siblings, suggesting genetic implications.

Discussion

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Cite This Study

Casanova et al. (2026) studied this question.

synapsesocial.com/papers/699bee551c6c6bad5397ff19 https://doi.org/10.1002/epd2.70159

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