Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
| Autor: | Cédric Le Caignec, Sarah Vergult, Franny Faes, Alfred Meurs, Annelies Dheedene, Bertrand Isidor, Agnès Gautier, Björn Menten, Sandra Janssens |
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| Přispěvatelé: | Neuroprotection & Neuromodulation |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Candidate gene
Adolescent Bioinformatics Article Epilepsy Intellectual Disability Intellectual disability Genetics medicine CACNA1H Humans Copy-number variation Genetic Association Studies In Situ Hybridization Fluorescence Genetics (clinical) G alpha subunit Chromosome Aberrations Comparative Genomic Hybridization biology Infant medicine.disease CACNA2D1 biology.protein Autism Female Calcium Channels |
| DOI: | 10.1038/ejhg.2014.141 |
| Popis: | Voltage-gated calcium channels have an important role in neurotransmission. Aberrations affecting genes encoding the alpha subunit of these channels have been associated with epilepsy and neuropsychiatric disorders such as autism or schizophrenia. Here we report three patients with a genomic aberration affecting the CACNA2D1 gene encoding the α2δ subunit of these voltage-gated calcium channels. All three patients present with epilepsy and intellectual disability pinpointing the CACNA2D1 gene as an interesting candidate gene for these clinical features. Besides these characteristics, patient 2 also presents with obesity with hyperinsulinism, which is very likely to be caused by deletion of the CD36 gene. |
| Databáze: | OpenAIRE |
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