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born to first-cousin parents, . et al. 0 affected with infantile-onset myoclonic epilepsy. The peculiar epileptic presentation prompted us to perform direct sequencing of the TBC1D24 gene. The patients had very early onset of focal myoclonic fits with variable topography in the two affected brothers. This observation combined with recent data from the literature - issue: - volume: - pages: .
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Sylviane, . et al. 0 Yann; Villard delineating the cerebral phenotype associated with the lack of Mecp2. We performed a morphometric study that revealed a size reduction of the whole brain and of structures involved in cognitive... - issue: - volume: - pages: .