Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures - Bodian, Dale L.; Schreiber, John M.; Vilboux, Thierry; Khromykh, Alina; Hauser, Natalie S. (Cold Spring Harbor molecular case studies, 2018)
Keywords: Age; Age of Onset; Alleles; Alternative Splicing; Biomarkers; Brain; Chromosome Mapping; Convulsions & seizures; Diagnostic systems; DNA Mutational Analysis; Electroencephalography; Encephalopathy; Epilepsy; Epileptic Syndromes - diagnosis; Epileptic Syndromes - genetics; Exons; Gene Frequency; Gene sequencing; Genetic screening; Genomes; Humans; Infant, Newborn; Male; Mutation; Pedigree; Phenotype; Protein-Serine-Threonine Kinases - genetics; Research Reports; Seizures; Seizures - diagnosis; Seizures - genetics; Sequence Deletion; Spasms, Infantile - diagnosis; Spasms, Infantile - genetics; Transcription; Whole Genome Sequencing; infantile spasms; generalized tonic seizures