Small Complex Rearrangement in HINT1-Related Axonal Neuropathy
This complex rearrangement could have been overlooked if the clinical picture had not been evaluated as a whole (from a clinical, neurophysiological, and neuroimaging point of view). Neuropsychiatric manifestations (intellectual disability, hyperactivity, etc.) are part of the picture of <i>HINT1</i>-related neuromyotonia.
Authors
- Alessandra Tessa (ORCID: https://orcid.org/0000-0002-1445-6434)
- María Clara Bonaglia (ORCID: https://orcid.org/0000-0002-7121-7712)
- Rosa Pasquariello (ORCID: https://orcid.org/0000-0002-5375-6034)
- Giada Sgherri (ORCID: https://orcid.org/0000-0001-8056-5690)
- Rosanna Trovato (ORCID: https://orcid.org/0000-0001-5990-5590)
- Roberta Battini (ORCID: https://orcid.org/0000-0002-7889-1355)
- Eliana Salvo (ORCID: https://orcid.org/0000-0001-9407-3195)
- Guja Astrea (ORCID: https://orcid.org/0000-0001-8588-0323)
- Filippo Maria Santorelli (ORCID: https://orcid.org/0000-0002-1359-9062)
- Silvia Frosini (ORCID: https://orcid.org/0000-0001-6169-4382)
- Mariapaola Schifino
- Luca Cesana
Institutions
- University of Pisa (IT)
- Fondazione Stella Maris (IT)
- IRCCS Eugenio Medea (IT)
Publication Details
- Journal
- Genes
- Published
- 2024-11-19
- DOI
- https://doi.org/10.3390/genes15111483
- Citations
- 1
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00