article_metadata: Tommaso Pippucci Antonia Parmeggiani Flavia Palombo Alessandra Maresca Andrea Angius Laura Crisponi Francesco Cucca Rocco Liguori Maria Lucia Valentino Marco Seri Valerio Carelli
article_metadata: 10.1371/journal.pone.0082154
article_metadata: PLoS One
article_metadata: 2013 Dec 16;8(12):e82154.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24358150/
article_metadata: Calcium Channels / genetics Mutation Spasms, Infantile / genetics
article_metadata: Calcium Channels / genetics Mutation Spasms, Infantile / genetics Case Reports Research Support, Non-U.S. Gov't Child Child, Preschool Humans Infant Male Phenotype CACNA2D2 protein, human Calcium Channels
article_metadata: PMC3864908
article_metadata: 24358150
article_metadata: A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy
article_metadata: 2013