A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In the same family, a rare CELSR3 polymorphism a...

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Bibliographic Details
Main Authors: Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valerio Carelli
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24358150/pdf/?tool=EBI

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24358150/pdf/?tool=EBI

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