The results highlight the major contribution of a limited number of genes and underscore the importance of early molecular diagnosis in a population with high consanguinity and underscore the importance of early molecular diagnosis in a population with high consanguinity.
ABPM appears to be a useful tool for accurately detecting subtle BP alterations in this population of children with primary headache, and may exhibit increased BP loads and disrupted BP patterns despite normal office measurements.
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
These prediction models demonstrate the feasibility of early prognostication in KCNQ2-RD and support future prospective external validation and enable more accurate individualised counselling by integrating clinical and genetic information readily available at time of genetic diagnosis.
E. Van Boxstael, C. Millevert, M. Hairabedian et al.· medRxiv· 0 citations
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