The claustrum sign is a distinctive neuroimaging finding characterized by bilateral T2/FLAIR hyperintensity of the claustrum, one of the most interconnected regions of the human brain, which may support early diagnosis and targeted treatment.
Margherita Burani, L. Muccioli, G. Giovannini et al.· Annals of Clinical and Trans...· 0 citations
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.· Epilepsia· 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
The role of CNVs in the etiology of DEE in an adult cohort is investigated, to define the most appropriate diagnostic approach in this population and support the clinical utility of CNV analysis inclusion in the diagnostic workflow for adult patients with DEE.
L. Licchetta, G. Bruschi, T. Giangregorio et al.· Epilepsia· 1 citation
The electroclinical and developmental features of three patients carrying truncating TANC2 variants identified through trio‐exome sequencing within the European collaborative platform NETRE are described, expanding the known clinical spectrum of TANC2‐related disorders and suggesting that selected patients may have a m...
L. Perilli, Carlotta Stipa, Gianmichele Villano et al.· Epilepsia Open· 0 citations
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