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Musicogenic seizures-STXBP1 encephalopathy with reflex seizures
Nimit N Desai1, Carlos Guerrero2, Maysen Mesaros1
1Department of Neurology, Medical University of South Carolina, Charleston, South Carolina, USA.
This study reports the first case of musicogenic seizures in an 18-year-old patient with syntaxin binding protein 1 (STXBP1) encephalopathy. Auditory stimuli reliably triggered stereotyped seizures, expanding the known phenotype of STXBP1-related disorders.
Area of Science:
- Neuroscience
- Genetics
- Epileptology
Background:
- Mutations in syntaxin binding protein 1 (STXBP1) are linked to various epileptic encephalopathies.
- The phenotypic spectrum of STXBP1 encephalopathies is expanding, but reflex seizures remain undocumented.
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