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

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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 alpha 2 delta 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.
Keywords
MUTATION, IDENTIFICATION, WIDE ASSOCIATION, BIPOLAR DISORDER, COPY NUMBER VARIANTS, DEPENDENT CALCIUM-CHANNELS, LINKED MENTAL-RETARDATION, SUBUNIT, PICCOLO, PROTEIN

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MLA
Vergult, Sarah et al. “Genomic Aberrations of the CACNA2D1 Gene in Three Patients with Epilepsy and Intellectual Disability.” EUROPEAN JOURNAL OF HUMAN GENETICS 23.5 (2015): 628–632. Print.
APA
Vergult, S., Dheedene, A., Meurs, A., Faes, F., Isidor, B., Janssens, S., Gautier, A., et al. (2015). Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability. EUROPEAN JOURNAL OF HUMAN GENETICS, 23(5), 628–632.
Chicago author-date
Vergult, Sarah, Annelies Dheedene, Alfred Meurs, Franny Faes, Bertrand Isidor, Sandra Janssens, Agnès Gautier, Cédric Le Caignec, and Björn Menten. 2015. “Genomic Aberrations of the CACNA2D1 Gene in Three Patients with Epilepsy and Intellectual Disability.” European Journal of Human Genetics 23 (5): 628–632.
Chicago author-date (all authors)
Vergult, Sarah, Annelies Dheedene, Alfred Meurs, Franny Faes, Bertrand Isidor, Sandra Janssens, Agnès Gautier, Cédric Le Caignec, and Björn Menten. 2015. “Genomic Aberrations of the CACNA2D1 Gene in Three Patients with Epilepsy and Intellectual Disability.” European Journal of Human Genetics 23 (5): 628–632.
Vancouver
1.
Vergult S, Dheedene A, Meurs A, Faes F, Isidor B, Janssens S, et al. Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability. EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(5):628–32.
IEEE
[1]
S. Vergult et al., “Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability,” EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 23, no. 5, pp. 628–632, 2015.
@article{7154130,
  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 alpha 2 delta 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.},
  author       = {Vergult, Sarah and Dheedene, Annelies and Meurs, Alfred and Faes, Franny and Isidor, Bertrand and Janssens, Sandra and Gautier, Agnès and Le Caignec, Cédric and Menten, Björn},
  issn         = {1018-4813},
  journal      = {EUROPEAN JOURNAL OF HUMAN GENETICS},
  keywords     = {MUTATION,IDENTIFICATION,WIDE ASSOCIATION,BIPOLAR DISORDER,COPY NUMBER VARIANTS,DEPENDENT CALCIUM-CHANNELS,LINKED MENTAL-RETARDATION,SUBUNIT,PICCOLO,PROTEIN},
  language     = {eng},
  number       = {5},
  pages        = {628--632},
  title        = {Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability},
  url          = {http://dx.doi.org/10.1038/ejhg.2014.141},
  volume       = {23},
  year         = {2015},
}

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