title: Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.
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.
authors: Center for Medical Genetics, Ghent University, Ghent University Hospital, Ghent, Belgium.
authors: Sarah
authors: S
authors: Vergult
authors: Center for Medical Genetics, Ghent University, Ghent University Hospital, Ghent, Belgium.
authors: Annelies
authors: A
authors: Dheedene
authors: Laboratory for Clinical and Experimental Neurophysiology, Neurobiology and Neuropsychology, Department of Neurology, Ghent University, Ghent University Hospital, Ghent, Belgium.
authors: Alfred
authors: A
authors: Meurs
authors: Centrum voor Ontwikkelingsstoornissen (COS), Ghent University Hospital, Ghent, Belgium.
authors: Fran
authors: F
authors: Faes
authors: Service de Génétique Médicale, Institut de Biologie, Nantes, France.
authors: Bertrand
authors: B
authors: Isidor
authors: Center for Medical Genetics, Ghent University, Ghent University Hospital, Ghent, Belgium.
authors: Sandra
authors: S
authors: Janssens
authors: Service de Pédiatrie, CHU, Nantes, France.
authors: Agnès
authors: A
authors: Gautier
authors: Service de Génétique Médicale, Institut de Biologie, Nantes, France.
authors: Cédric
authors: C
authors: Le Caignec
authors: Center for Medical Genetics, Ghent University, Ghent University Hospital, Ghent, Belgium.
authors: Björn
authors: B
authors: Menten
mesh_terms: D000293:Adolescent; D015220:Calcium Channels / Q000235:genetics*; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C425903:CACNA2D1 protein, human; D015220:Calcium Channels