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

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 aberrat...

詳細記述

保存先:
書誌詳細
出版年:Eur J Hum Genet
主要な著者: Vergult, Sarah, Dheedene, Annelies, Meurs, Alfred, Faes, Fran, Isidor, Bertrand, Janssens, Sandra, Gautier, Agnès, Le Caignec, Cédric, Menten, Björn
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402620/
https://ncbi.nlm.nih.gov/pubmed/25074461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.141
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