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- Title
Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency.
- Authors
Pollini, Luca; Greco, Carlo; Novelli, Maria; Mei, Davide; Pisani, Francesco; De Koning‐Tijssen, Marina A.J.; Guerrini, Renzo; Leuzzi, Vincenzo; Galosi, Serena
- Abstract
This article discusses the neurophysiological analysis of cortical myoclonic tremor and excessive startle in ARHGEF9 deficiency. The study describes the clinical and neurophysiological phenotype of a patient with intellectual disability, cortical myoclonic tremor, and excessive startle due to a de novo variant in ARHGEF9. The patient exhibited symptoms such as jerky movements, intellectual disability, and tremors. Neurophysiological evaluations were conducted, revealing abnormal interactions between hyperexcitable cortical areas and impaired GABAergic and glycinergic neurotransmission. The findings expand the understanding of rare genetic movement disorders and may have implications for diagnosis and treatment.
- Subjects
MYOCLONUS; TREMOR; MOVEMENT disorders; WECHSLER Adult Intelligence Scale; STIFF-person syndrome
- Publication
Movement Disorders Clinical Practice, 2024, Vol 11, Issue 4, p434
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13986