BUSCADOR RECOLECTA

Digital.CSIC. Repositorio Institucional del CSIC

oai:digital.csic.es:10261/170405

Complex neurodevelopmental syndromes in newborns frequently have an unknown etiology, in which genetic factors play a pathogenic role. We have studied a family with an affected child presenting since birth epileptic-like crisis combined with severe neuromotor and developmental delay, dystonia, and hyper-excitability of unknown origin. Genomic studies by Whole-exome sequencing (WES) were performed in the four members of the family. In the patient, WES detected a de novo in-frame duplication of thirty-three nucleotides within exon seven of KCNQ2 (potassium M-channel). This insertion results in the duplication of the first twelve aminoacids of the calmodulin binding site I, which impairs its regulation by calcium. The dataset includes the WES raw sequence reads (fastq format) of the four family members: mother, father, daughter and son (patient)., Centro de Investigación del Cáncer (CSIC- Universidad de Salamanca)., 2018_CIC_Sample_MOTHER_1.fastq.gz; 2018_CIC_Sample_MOTHER_2.fastq.gz; 2018_CIC_Sample_FATHER_1.fastq.gz; 2018_CIC_Sample_FATHER_2.fastq.gz; 2018_CIC_Sample_SON_PATIENT_1.fastq.gz; 2018_CIC_Sample_SON_PATIENT_2.fastq.gz; 2018_CIC_Sample_DAUGHTER_1.fastq.gz; 2018_CIC_Sample_DAUGHTER_2.fastq.gz, Peer reviewed