학술논문
STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy.
Document Type
Article
Author
Source
Subject
*MOVEMENT disorders
*EPILEPSY
*HEMIPLEGIA
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*
Language
ISSN
2330-1619
Abstract
His older biological sister has learning difficulties, joint hypermobility and attention deficit hyperactivity disorder (ADHD) but no movement disorder or epilepsy. To date, movement disorders without epilepsy are only rarely reported in I STXBP1 i -related disease and all described cases have severe ID: 3 girls with ataxia and tremor8; one individual with spasticity and tremor9; and one with tremor with myoclonus10 (Table 1). Keywords: STXBP1; tremor; stop-loss; movement disorder EN STXBP1 tremor stop-loss movement disorder 837 840 4 08/05/22 20220801 NES 220801 I STXBP1 i encodes syntaxin-binding protein 1, a brain-expressed membrane trafficking protein that facilitates presynaptic vesicle docking in neurotransmission. [Extracted from the article]