2024-03-29T14:30:24Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/1704052019-06-01T04:30:32Zcom_10261_79com_10261_1col_10261_163252
2018-10-01T12:04:08Z
urn:hdl:10261/170405
2018 CIC Samples KCNQ2 exon 7 partial duplication fastq files
Lazo, Pedro A.
García-Hernández, Juan L.
Gómez-Puertas, Paulino
Marcos-Alcalde, Íñigo
Arjona, César
Villarroel, Álvaro
González-Sarmiento, Rogelio
Fons, Carmen
Centro de Investigación del Cáncer (España)
Lazo, Pedro A. [0000-0001-8997-3025]
Gómez Puertas, Paulino [0000-0003-3131-729X]
Marcos-Alcalde, Íñigo [0000-0002-0674-6423]
Arjona, César [0000-0003-1552-8724]
Villarroel, Álvaro [0000-0003-1096-7824]
González-Sarmiento, Rogelio [0000-0002-2726-6795]
Gómez Puertas, Paulino [pagomez@cbm.csic.es]
Dystonia
Epilepsy
Neurodevelopmental delay
KCNQ2
CNV
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).
2018-10-01T12:04:08Z
2018-10-01T12:04:08Z
2018-09
dataset
Lazo, Pedro A.; García-Hernández, Juan L.; Gómez Puertas, Paulino; Marcos-Alcalde, Íñigo; Arjona, César; Villarroel, Álvaro; González-Sarmiento, Rogelio; Fons, Carmen; 2018; "2018 CIC Samples KCNQ2 exon 7 partial duplication fastq files [Dataset]"; DIGITAL.CSIC; http://dx.doi.org/10.20350/digitalCSIC/8569
http://hdl.handle.net/10261/170405
10.20350/digitalCSIC/8569
eng
Lazo, Pedro A.; García-Hernández, Juan L.; Gómez Puertas, Paulino; Marcos-Alcalde, Íñigo; Arjona, César; Villarroel, Álvaro; González-Sarmiento, Rogelio; Fons, Carmen. Phenotypic cooperation of a KCNQ2 exon 7 partial duplication and compound copy number variations in genes associated to a severe epileptic and neurodevelopmental delay.
Sí
openAccess
start=2015-11-01; end=2017-01-31
DIGITAL.CSIC