Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects

Medicine and Dentistry

• Autosomal Recessive Disorder 33%
• Axon 33%
• Cell Spreading 33%
• Cytoskeleton 33%
• Developmental Delay 33%
• Developmental Disorder 100%
• Epileptic Seizure 100%
• Erythrocyte Band 4.1 Protein 33%
• Exome Sequencing 33%
• Fibroblast 33%
• Hypotonia 33%
• Messenger RNA 66%
• Myelin 33%
• Myelination 100%
• Nonsense Mediated mRNA Decay 66%
• Oligodendrocyte 66%
• Pathogenicity 33%
• Programmed Cell Death 33%
• Protein Expression 33%
• Real-Time Polymerase Chain Reaction 33%
• Upregulation 33%
• Western Blot 33%

Neuroscience

• Autosomal Recessive Disorder 33%
• Axon 33%
• Cell Spreading 33%
• Cytoskeleton 33%
• Erythrocyte Band 4.1 Protein 33%
• Exome Sequencing 33%
• Fibroblast 33%
• Hypotonia 33%
• Messenger RNA 66%
• Myelin 33%
• Myelinogenesis 100%
• Nonsense Mediated mRNA Decay 66%
• Oligodendrocyte 66%
• Programmed Cell Death 33%
• Protein Expression 33%
• Real-Time Polymerase Chain Reaction 33%
• Western Blot 33%

Biochemistry, Genetics and Molecular Biology

• Erythrocyte Membrane 33%