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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

I. Scheffer

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Review Oct 2026

Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.

This comprehensive characterization of brain MRI abnormalities in SCN2A disease revealed distinct imaging patterns across phenotypic subgroups that highlight the importance of early seizure control, guide counselling of patients and families, and inform MRI interpretation and biomarker research for future clinical tria...

Daniel Bamborschke, Z. Bendella, Meagan Allen et al. · 0 citations
Open access Aug 2026

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

No meaningful association between PRS and age at onset, history of febrile seizures, pre-/perinatal complications, epilepsy syndromes, seizure types, co-occurrence of functional/dissociative seizures, psychiatric comorbidities, electroencephalographic/magnetic resonance imaging findings, or drug response could be demon...

Sophie von Brauchitsch, Nils Hartung, R. Karge et al. · 0 citations
Open access Aug 2026

Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy

Cortical dyslamination is suggested as the architectural substrate for the abnormal morphometric parameters and reduced surface areas in patients with STXBP1 encephalopathy, suggesting cortical dyslamination as the architectural substrate for the abnormal morphometric parameters and reduced surface areas.

M. Lenge, Alice Dainelli, S. Balestrini et al. · 0 citations
Open access Aug 2026

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

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. · 1 citation
Aug 2026

Early clinical prediction of neurodevelopmental outcome in KCNQ2-related disorders

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. · 0 citations
Open access Jul 2026

SYNGAP1 haploinsufficiency disrupts early neurodevelopment and accelerates intrinsic neuronal maturation in human patient-derived models

It is demonstrated that SYNGAP1 haploinsufficiency disrupts early human brain development and accelerates intrinsic neuronal maturation, with pathogenic mechanisms emerging before synaptogenesis and extending beyond SYNGAP1’s established synaptic role.

Montanna Waters, Lucas Teasdale, Sean Byars et al. · 0 citations

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