Keyphrases
Seizure Threshold
100%
Epilepsy
100%
Biallelic
100%
Body Dysmorphic Disorder
100%
Corpus Callosum
100%
Infantile Encephalopathy
100%
Quantitative PCR
16%
Severe Disease
16%
Epileptogenesis
16%
Brain Development
16%
Whole Exome Sequencing
16%
Autosomal Recessive
16%
Splicing mutation
16%
Biallelic mutations
16%
Compound Heterozygous mutation
16%
Affected children
16%
Nonsense mutation
16%
Exonic
16%
Protein Truncation
16%
Epileptic Syndromes
16%
Brain MRI
16%
Molecular Role
16%
Developmental Milestones
16%
Causative mutation
16%
Peroxisomal Membrane Protein
16%
Epileptic Encephalopathy
16%
Intractable Seizures
16%
Neuronal Excitability
16%
Neurological Deterioration
16%
Nonsense-mediated mRNA Decay
16%
Infantile Epileptic Encephalopathy
16%
Exon Skipping
16%
Premature Termination
16%
Homozygous Nonsense mutation
16%
Cavum Septum Pellucidum
16%
Refractory Epilepsy
16%
Blood RNA
16%
Medicine and Dentistry
Brain Disease
100%
Corpus Callosum
100%
Seizure Threshold
100%
Prematurity
33%
Nonsense Mutation
33%
Intractable Epilepsy
33%
Deterioration
16%
Excitability
16%
Exome Sequencing
16%
Reverse Transcription Polymerase Chain Reaction
16%
Autosomal Recessive Inheritance
16%
Disease
16%
Epileptogenesis
16%
Brain Development
16%
Magnetic Resonance Imaging of Brain
16%
Nonsense Mediated mRNA Decay
16%
Epileptic Discharge
16%
Developmental Milestone
16%
Drug Resistant Epilepsy
16%
Septum Pellucidum
16%
Exon Skipping
16%
Biochemistry, Genetics and Molecular Biology
Nonsense Mutation
100%
Excitability
50%
RNA
50%
Reverse Transcription Polymerase Chain Reaction
50%
Brain Development
50%
Exome Sequencing
50%
Autosomal Recessive Inheritance
50%
Splice Site Mutation
50%
Nonsense-Mediated Decay
50%
Exon Skipping
50%
Magnetic Resonance Imaging
50%
Neuroscience
Corpus Callosum
100%
Brain Disease
100%
Nonsense Mutation
50%
Brain Development
25%
Epileptogenesis
25%
Nonsense Mediated mRNA Decay
25%
Exome Sequencing
25%
Neuronal Excitability
25%
Magnetic Resonance Imaging of Brain
25%
Septum Pellucidum
25%
Intractable Epilepsy
25%
Exon Skipping
25%