학술논문
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.
Document Type
Article
Author
Source
Subject
*CALCIUM channels
*GENETICS of epilepsy
*INTELLECTUAL disabilities
*NEURAL transmission
*NEUROBEHAVIORAL disorders
*GENETICS of autism
*GENETICS of schizophrenia
*HUMAN genome
*DIAGNOSIS
*GENETICS
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Language
ISSN
1018-4813
Abstract
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. [ABSTRACT FROM AUTHOR]