Additional file 2: of Doublecortin-expressing cell types in temporal lobe epilepsy

Supplementary Methods (DOCX 18 kb

Additional file 1: of Doublecortin-expressing cell types in temporal lobe epilepsy

Table S1. Detail of each case used in the study including clinical and psychometric data and the type of study carried out (DOCX 29 kb

Genomic and clinical predictors of lacosamide response in refractory epilepsies

Objective: Clinical and genetic predictors of response to antiepileptic drugs (AEDs) are largely unknown. We examined predictors of lacosamide response in a real-world clinical setting.Methods: We tested the association of clinical predictors with treatment response using regression modeling in a cohort of people with refractory epilepsy. Genetic assessment for lacosamide response was conducted via genome-wide association studies and exome studies, comprising 281 candidate genes.Results: Most patients (479/483) were treated with LCM in addition to other AEDs. Our results corroborate previous findings that patients with refractory genetic generalized epilepsy (GGE) may respond to treatment with LCM. No clear clinical predictors were identified. We then compared 73 lacosamide responders, defined as those experiencing greater than 75% seizure reduction or seizure freedom, to 495 nonresponders (Significance: No genetic predictor of lacosamide response was identified. Patients with refractory GGE might benefit from treatment with lacosamide.</p

La Petite presse : journal quotidien... / [rédacteur en chef : Balathier Bragelonne]

21 juin 18691869/06/21 (A4,N1159)

Family trees depicting transmission of 15q11.2-q13.3 duplications and neuropsychiatric phenotypes.

<p>Red fill indicates maternal duplications, blue indicates paternal duplications, and grey indicates no duplications. Samples where no DNA was available have no fill. Where DNA samples were available, parent of origin was determined using methylation-sensitive high-resolution melt curve analysis, or methylation-sensitive Southern Blot. Neuropsychiatric phenotype (detailed in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005993#pgen.1005993.s004" target="_blank">S1 Table</a>) is indicated as follows: SZ—schizophrenia; SZA—schizoaffective; DD—developmental delay; UA—unaffected. In addition, one individual was reported to have epilepsy and another ADHD.</p

Penetrance estimates for the 15q11.2-q13.3 duplication.

<p>In brackets are shown the 95%CI, calculated with the methods described in [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005993#pgen.1005993.ref024" target="_blank">24</a>].</p

Selection coefficient estimates for 15q11.2-q13.3 duplications.

<p>Selection coefficients are approximated as the proportion of <i>de novo</i> CNV out of the total number of CNVs: <i>de novo</i>/(<i>de novo</i> + inherited).</p

Prevalence of 15q11-q13 duplications in disease and control cohorts.

<p>Prevalence of 15q11-q13 duplications in disease and control cohorts.</p

CNVs on chromosome 15.

<p>The image depicts the region on chromosome 15 that is affected by deletions and duplications caused by a number of low copy repeats. These form five recognised breakpoints (BPs) which cause the formation of deletions and duplications of different sizes. Several of them result in recognised syndromes: PWS/AS, 15q11.2 deletion and 15q13.3 deletion and duplication. The black bars at the top show the positions of the SZ/SZA probands in the current study (<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005993#pgen.1005993.s004" target="_blank">S1 Table</a>). All four combinations of duplications between BP1 and BP4 are represented. They all intersect the regions of maternally and paternally expressed genes and the GABA receptors gene cluster.</p