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| Título: | 2018 CIC Samples KCNQ2 exon 7 partial duplication fastq files |
Autor: | Lazo, Pedro A. CSIC ORCID ; García-Hernández, Juan L.; Gómez-Puertas, Paulino CSIC ORCID ; Marcos-Alcalde, Íñigo CSIC ORCID; Arjona, César; Villarroel, Álvaro CSIC ORCID; González-Sarmiento, Rogelio CSIC ORCID ; Fons, Carmen | Palabras clave: | Dystonia Epilepsy Neurodevelopmental delay KCNQ2 CNV |
Fecha de publicación: | sep-2018 | Editor: | DIGITAL.CSIC | Citación: | 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 | Descripción: | 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). | URI: | http://hdl.handle.net/10261/170405 | DOI: | 10.20350/digitalCSIC/8569 | Referencias: | 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. |
| Aparece en las colecciones: | (CBM) Conjuntos de datos |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| 2018_CIC_Sample_MOTHER_1.fastq.gz | 4,37 GB | Unknown | Visualizar/Abrir | |
| 2018_CIC_Sample_MOTHER_2.fastq.gz | 4,34 GB | Unknown | Visualizar/Abrir | |
| 2018_CIC_Sample_FATHER_1.fastq.gz | 4,16 GB | Unknown | Visualizar/Abrir | |
| 2018_CIC_Sample_FATHER_2.fastq.gz | 4,22 GB | Unknown | Visualizar/Abrir | |
| 2018_CIC_Sample_SON_PATIENT_1.fastq.gz | 4,23 GB | Unknown | Visualizar/Abrir | |
| 2018_CIC_Sample_SON_PATIENT_2.fastq.gz | 4,16 GB | Unknown | Visualizar/Abrir | |
| 2018_CIC_Sample_DAUGHTER_1.fastq.gz | 4,03 GB | Unknown | Visualizar/Abrir | |
| 2018_CIC_Sample_DAUGHTER_2.fastq.gz | 3,97 GB | Unknown | Visualizar/Abrir | |
| readme.txt | 1,95 kB | Text | Visualizar/Abrir |
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