BACKGROUND
Angelman Syndrome (AS) is a rare neurodevelopmental disorder with epilepsy affecting up to 90% of the children. Although several studies have examined antiseizure medications (ASMs) in children with AS, preferred ASMs vary between countries and while new ASMs have become available in clinical practice in rec...
L. Manssen, Patrick Pfarrer, J. Gburek-Augustat et al.· European journal of paediatr...· 0 citations
The findings suggest that LiCl may serve as a potential therapeutic strategy for patients with WDFY3 LoF variants and expand on the phenotype related to WDFY3 LoF and provide insights into the pathophysiology using in vitro human and murine neuronal models.
Moritz J. Paha, Arshi Mustafa, Lyvin Tat et al.· Molecular Psychiatry· 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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