<i>CACNA2D2</i> mRNA and protein expression.

<p>Left panel: the mRNA content of the proband was evaluated by Real Time-PCR and normalized on that of control individuals (n = 4). <i>CACNA2D2</i> mRNA resulted strongly reduced in the proband (II:1, 18%), father (I:1, 28%) and mother (I:2, 54%) compared to controls (Anova test, p<0.001). Data are shown as mean ± standard error of three independent experiments. Right panel: the protein content was evaluated by Western blot and normalized on that of control individuals (n = 3), using GAPDH as reference protein and loading control. Graph shows data obtained by densitometric analysis. The proband (II:1) showed a 3% of protein expression compared to controls (Anova on Ranks test, p = 0.034), whereas both parents (I:1 and I:2) had ∼50% of expression. Data are expressed as mean ± standard error of three independent experiments. Representative western blot is shown.</p

Instrumental findings in the proband.

<p>Left panel: EEG recording during wakefulness showing generalized spike-wave complex at 4 Hz lasting thirteen seconds with absence, eye up deviation and eyelid myoclonia. Right panel: Sagittal T1 MRI showing prominent cerebellar atrophy.</p

Features of the CACNA2D2 and CELSR3 mutations.

<p>−12.3 to 6.17, with 6.17 being the most conserved <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0082154#pone.0082154-Cooper1" target="_blank">[30]</a>. GERP (Genomic Evolutionary Rate Profiling) is a measure of the nucleotide evolutionary conservation. It ranges from </p