A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual

Keyphrases

• Epileptic Encephalopathy 100%
• Developmental Encephalopathy 100%
• SYNJ1 100%
• Homozygous Variant 100%
• Afro-Caribbean 100%
• Homozygosity 25%
• Clinical Manifestations 12%
• Seizure 12%
• Sanger Sequencing 12%
• Proband 12%
• Exome Sequencing 12%
• Developmental Delay 12%
• Pathogenic Variants 12%
• Heterozygous Carrier 12%
• Early Parkinson's Disease 12%
• Generalized Dystonia 12%
• Clinical Knowledge 12%
• Allelic Heterogeneity 12%
• Biallelic 12%
• Dual Function 12%
• Synaptojanin 12%
• Lipid Phosphatase 12%
• Synaptic Vesicle Cycle 12%
• Novel Pathogenic Variant 12%
• Polyphosphoinositides 12%

Biochemistry, Genetics and Molecular Biology

• Homozygosity 100%
• Dynamics 50%
• Phosphoinositide 50%
• Phosphatase 50%
• Sanger Sequencing 50%
• Exome Sequencing 50%
• Proband 50%
• Genetic Carrier 50%
• Heterozygote 50%
• Synaptojanin 50%

Neuroscience

• Encephalopathy 100%
• Dystonia 20%
• Synaptic Vesicle 20%
• Parkinsonism 20%
• Exome Sequencing 20%
• Sanger Sequencing 20%
• Synaptojanin 20%
• Phosphoinositide Phosphatase 20%
• Phosphatidylinositol Phosphate 20%