As part of the third French National Plan for Rare Diseases, the AnDDI-Rares network initiated a nationwide study in 2019 to assess how diagnostic practices for developmental anomalies have evolved over the last decade (2012-2022), in the context of the implementation of genome sequencing (GS) capabilities via the Fran...
J. Maraval, Céline Dampfhoffer, Antoine Journé et al.· European Journal of Human Ge...· 0 citations
This study provides the first ever quantification of the temporally-ordered emergence of cortical folding in successive waves: the earliest-emerging low frequency, deep fissures are progressively superseded by the accelerating expansion of higher frequency folds.
Harvey Dienye, A. Mihailov, Thomas Sanchez et al.· bioRxiv· 0 citations
Earlier SCB initiation was associated with earlier seizure offset and more favourable developmental outcomes, underscoring the importance of early genetic diagnosis and timely SCB therapy, and the use of SCBs, particularly CBZ and OXC, as first-line therapy in (LOF) KCNQ2-DEE and SeL(F)NE is supported.
C. Millevert, M. Hairabedian, Samuel Dahan et al.· Brain : a journal of neurolo...· 1 citation
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