A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24

Keyphrases

• Intellectual Disability 100%
• Focal Epilepsy 100%
• TBC1D24 100%
• Moderate to Severe 25%
• Moderate Intellectual Disability 25%
• Israeli Arabs 25%
• Neuronal Cells 25%
• Autosomal Recessive 25%
• Disease-causing mutations 25%
• Gene Family 25%
• Massively Parallel Sequencing 25%
• Mouse Brain 25%
• Pathogenic mutations 25%
• Protein Translation 25%
• Consanguineous 25%
• LOD Score 25%
• Multipoint Linkage Analysis 25%
• Causative mutation 25%
• BRCT Domain 25%
• Genes of Unknown Function 25%
• Target Enrichment 25%
• Dysarthria 25%
• Axonal Arborization 25%
• Predicted Function 25%
• Phenotypic Abnormalities 25%
• 16p13.3 25%
• Rab GTPase 25%
• Cortical Thickening 25%
• Long Genes 25%

Biochemistry, Genetics and Molecular Biology

• Mental Retardation 100%
• Linkage Analysis 50%
• Translation (Protein Synthesis) 50%
• Mouse 50%
• Protein Domain 50%
• Multigene Family 50%
• Autosomal Recessive Inheritance 50%
• Deep Sequencing 50%
• GTPase 50%

Neuroscience

• Focal Epilepsy 100%
• Intellectual and Developmental Disabilities 100%
• Protein Domain 50%
• Dysarthria 50%
• Multigene Family 50%
• Rab Protein 50%
• Deep Sequencing 50%