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Objective
Favorable seizure outcome is reported following resection of bottom‐of‐sulcus dysplasia (BOSD). We assessed the distribution of epileptogenicity and dysplasia in and around BOSD to better understand this clinical outcome and the optimal surgical approach.
Methods
We studied 27 children and adolescents with magnetic resonance imaging (MRI)‐positive BOSD who underwent epilepsy surgery;...
Objective
Dominant spinocerebellar ataxias (SCA) are characterized by genetic heterogeneity. Some mapped and named loci remain without a causal gene identified. Here we applied next generation sequencing (NGS) to uncover the genetic etiology of the SCA25 locus.
Methods
Whole‐exome and whole‐genome sequencing were performed in families linked to SCA25, including the French family in which the SCA25 locus...
Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family‐based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothesized that molecular genetic analysis of large multiplex families would enable the identification of variants of milder effects. We studied a large...
Worldwide, there is growing appreciation of the importance of integrating genetic information into conservation management. However, there are commonly occurring problems which impact on doing this successfully. This issue is well illustrated by kiwi Apteryx species. Like many endangered taxa, extant kiwi populations are small, fragmented and isolated, raising concerns of potential inbreeding depression...