A Novel Variant of NBEA Causing Paroxysmal Kinesogenic Dyskinesia (P8-5.019)
We describe a patient who presented with unilateral dystonic episodes triggered by sudden movements. Genetic testing revealed a variant in NBEA. We describe their presentation, clinical course and management with accompanying video.
Authors
- James R. Lupski (ORCID: https://orcid.org/0000-0001-9907-9246)
- Davut Pehli̇van (ORCID: https://orcid.org/0000-0001-5788-0270)
- Daniel G. Calame (ORCID: https://orcid.org/0000-0001-6860-372X)
- Manasa Sudheendra
- Mariam Hull (ORCID: https://orcid.org/0000-0002-7340-1660)
Institutions
- Baylor College of Medicine (US)
- Texas Children's Hospital (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000210550
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00