Tommaso Pippucci Antonia Parmeggiani Flavia Palombo Alessandra Maresca Andrea Angius Laura Crisponi Francesco Cucca Rocco Liguori Maria Lucia Valentino Marco Seri Valerio Carelli
10.1371/journal.pone.0082154
PLoS One
2013 Dec 16;8(12):e82154.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24358150/
Calcium Channels / genetics Mutation Spasms, Infantile / genetics
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
PMC3864908
24358150
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy
2013