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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Detalles Bibliográficos
Autores principales: Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3864908/
https://www.ncbi.nlm.nih.gov/pubmed/24358150
http://dx.doi.org/10.1371/journal.pone.0082154

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3864908/
https://www.ncbi.nlm.nih.gov/pubmed/24358150
http://dx.doi.org/10.1371/journal.pone.0082154

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