Novel SMC1A frameshift mutations in children with developmental delay and epilepsy

Keyphrases

• Frameshift mutation 100%
• Developmental Epilepsy 100%
• SMC1A 100%
• Children with Developmental Delays 100%
• Epilepsy 40%
• Craniofacial Features 40%
• Cornelia De Lange Syndrome (CdLS) 40%
• Genome Analysis 20%
• Genetic Evaluation 20%
• Early childhood 20%
• Missense 20%
• Laboratory Evaluation 20%
• Clinical Response 20%
• Image Evaluation 20%
• Whole Exome Sequencing 20%
• Multisystem 20%
• Response to Therapy 20%
• Phenotypic Heterogeneity 20%
• Developmental Conditions 20%
• X-inactivation 20%
• Valproic Acid 20%
• Genetic Etiology 20%
• In-frame Deletion 20%
• Developmental Delay 20%
• Refractory Epilepsy 20%
• Allelic Heterogeneity 20%
• Medically Refractory Seizures 20%
• Early Infantile 20%
• Gene Panel 20%
• Neurological Involvement 20%
• Severe Developmental Delay 20%
• Phenotypic Spectrum 20%
• Developmental and Epileptic Encephalopathy 20%

Biochemistry, Genetics and Molecular Biology

• Frameshift Mutation 100%
• SMC1A 100%
• Genetics 40%
• Exome Sequencing 40%
• X-Inactivation 20%
• Genetic Evaluation 20%
• Missense 20%