A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia

Keyphrases

• Affected Siblings 100%
• Attachment Receptor 16%
• Cerebellar Ataxia 100%
• Cerebellar Dysfunction 16%
• Clinical Features 33%
• Clinical Spectrum 16%
• Exon 16%
• Exon 5 16%
• Facial Dysmorphism 16%
• Intellectual Disability 16%
• Israeli 100%
• Language Delay 16%
• Magnetic Resonance Imaging 16%
• Missense 100%
• N-ethylmaleimide-sensitive Factor 16%
• Neurological Features 16%
• Normal Intelligence 16%
• Receptor Complex 16%
• Seizure 100%
• SNAP-25 100%
• Synaptic Vesicle Exocytosis 16%
• Whole Exome Sequencing 16%

Neuroscience

• Ataxia 100%
• Exocytosis 16%
• Exome Sequencing 16%
• Exon 33%
• Intellectual and Developmental Disabilities 16%
• Magnetic Resonance Imaging 16%
• N Ethylmaleimide Sensitive Factor 16%
• Receptor 16%
• Speech Delay 16%
• Synaptic Vesicle 16%
• Synaptosomal Associated Protein 25 100%

Biochemistry, Genetics and Molecular Biology

• Exocytosis 16%
• Exome Sequencing 16%
• Exon 33%
• Intellectual Disability 16%
• Isoform 33%
• Magnetic Resonance Imaging 16%
• Missense 100%
• N-Ethylmaleimide 16%
• SNAP25 100%