LymphedemaV1, France, Analysis, bibRecord, 000119

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Identifieur interne : 000119 ( France/Analysis ); précédent : 000118; suivant : 000120

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Auteurs : Sarah Vergult [Belgique] ; Annelies Dheedene [Belgique] ; Alfred Meurs [Belgique] ; Fran Faes [Belgique] ; Bertrand Isidor [France] ; Sandra Janssens [Belgique] ; Agnès Gautier [France] ; Cédric Le Caignec [France] ; Björn Menten [Belgique]

Source :

European Journal of Human Genetics [ 1018-4813 ] ; 2014.

RBID : PMC:4402620

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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402620

DOI: 10.1038/ejhg.2014.141
PubMed: 25074461
PubMed Central: 4402620

Affiliations:

Belgique, France

Links to Exploration step

PMC:4402620

Le document en format XML

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<front><div type="abstract" xml:lang="en"><p>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 <italic>CACNA2D1</italic>
 gene encoding the <italic>α</italic>
<sub>2</sub>
<italic>δ</italic>
 subunit of these voltage-gated calcium channels. All three patients present with epilepsy and intellectual disability pinpointing the <italic>CACNA2D1</italic>
 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 <italic>CD36</italic>
 gene.</p>
</div>
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Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

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Abstract

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