Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations

Keyphrases

• Seizure Disorder 100%
• Intrafamilial Variability 100%
• TBC1D24 100%
• Neonatal Seizures 100%
• TBC1D24 Gene 66%
• Functional Studies 33%
• Further Analysis 33%
• Family Members 33%
• Clinical Presentation 33%
• Intellectual Disability 33%
• Disease Severity 33%
• Seizure 33%
• Clinical Data 33%
• Protein Expression Analysis 33%
• Targeted Treatment 33%
• Clinical Assessment 33%
• Exome Sequencing 33%
• Compound Heterozygous mutation 33%
• Novel mutation 33%
• Related Disorders 33%
• Functional Impact 33%
• Familial Cases 33%
• Pathogenic Variants 33%
• Deafness 33%
• Novel Variants 33%
• Nonsyndromic Deafness 33%
• Clinical Prognosis 33%
• Neurotransmission 33%
• Genetic Results 33%
• Loss of Expression 33%
• Infantile Epileptic Encephalopathy 33%
• Osteodystrophy 33%
• Onychodystrophy 33%
• Phenotype Progression 33%
• Cerebral Cortex Development 33%
• Phenotype Severity 33%
• Heterozygous Missense Variant 33%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Missense 100%
• Protein Expression 100%
• Missense Mutation 100%
• Exome Sequencing 100%
• Expression Analysis 100%
• Nonsyndromic Deafness 100%
• Synaptic Transmission 100%