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: .
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Marie-Reine, . et al. 0 Laurent";Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex;Molecular Neurobiology;;1559-1182;10.1007/s12035-014-8919-y;;DNA double-strand breaks (DSBs) frequently occur in rapidly dividing cells such as proliferating progenitors during central nervous system development. If they cannot be repaired - issue: - volume: - pages: .
a hitherto undetected anomaly of energy metabolism that may reflect and contribute to cerebral injury and dysfunction., . et al. 0 - issue: - volume: - pages: .
we uncovered an important reduction of brain ATP level, . et al. 0 a hitherto undetected anomaly of energy metabolism that may reflect and contribute to cerebral injury and dysfunction.;17/02/2006;04/08/2025 08:04;04/08/2025 08:04;;776-783;;3;340;;Biochem Biophys Res Commun;;;;;;;;eng;;;;;;;Place: United States PMID: 16380085 - issue: - volume: - pages: .