P368: Heterozygous dominant-negative variants in DEAF1: A clinical case of Vulto-Van Silfhout-de Vries syndrome caused by a de novo DEAF1 variant
Abstract
The patient’s epilepsy has proven intractable. Despite multiple anti-seizure medications, she experiences frequent nocturnal tonic-clonic seizures and daily episodes of head shaking and eyelid fluttering. Video EEG confirmed mixed generalized and focal onset; brain MRI was normal. Vagus nerve stimulation (VNS) therapy is planned. Comorbidities are managed by gastroenterology for chronic constipation and rumination (responsive to pyloric Botox), ophthalmology for esotropia, and intensive behavioral therapy for aggression and irritability, which have shown gradual improvement.
Fields of Study & Subjects
Genetics and Neurodevelopmental Disorders
Genomics and Rare Diseases
Epilepsy research and treatment
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103862–103862
- Publication date
- 1 January 2026
- Language
- EN