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A Novel Variant in GLRA1 Associated With Emotional Stimulus-Sensitive Hemichoreic Movements.

Martina Giuntini1, Lucia Picchi2, Gianfranco Cafforio1

  • 1Unit of Neurology, San Luca Hospital, Lucca, Italy.

American Journal of Medical Genetics. Part A
|November 6, 2025
PubMed
Summary

A rare genetic variant in the GLRA1 gene caused late-onset hyperekplexia (HPX) presenting as movement disorder. This case highlights the importance of genetic testing for atypical adult-onset neurological conditions.

Keywords:
GLRA1HPX1choreaglycine receptorhemichoreahyperekplexia

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