A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

Keyphrases

• Compound Heterozygous mutation 100%
• Myoclonus 100%
• Large Deletion 100%
• Heterozygous Missense mutation 100%
• Exon 3 66%
• Seizure 33%
• Eye Movements 33%
• Genetic Causes 33%
• Single-family 33%
• Exome Sequencing 33%
• Epileptic Syndromes 33%
• Conserved Segments 33%
• Opsoclonus 33%
• Steroid Therapy 33%
• Clinical Symptoms 33%
• Ataxia 33%
• Potassium Channel 33%
• Basic Amino Acids 33%
• Truncated Protein 33%
• Heterozygous Deletion 33%
• Acute Onset 33%
• Exon 4 33%
• Progressive Myoclonus Epilepsy 33%
• Atypical Course 33%
• MLPA Analysis 33%
• Unique Phenotypes 33%
• Predicted Proteins 33%
• Causative Genes 33%
• Whole Genome/Exome Sequencing 33%

Biochemistry, Genetics and Molecular Biology

• Missense Mutation 100%
• Exon 100%
• Exome Sequencing 100%
• Amino Acids 50%
• Genetics 50%
• Potassium Channel 50%
• Multiplex Ligation-Dependent Probe Amplification 50%
• Eye Movement 50%
• Steroid 50%
• Electroencephalography 50%

Neuroscience

• Myoclonus 100%
• Missense Mutation 100%
• Ataxia 100%
• Exome Sequencing 50%
• Exon 50%
• Steroids 25%
• Eye Movement 25%
• Electroencephalography 25%
• Potassium Channel 25%
• Basic Amino Acids 25%
• Multiplex Ligation-Dependent Probe Amplification 25%
• Epilepsy 25%
• Genetics 25%