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
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.· Neurology: Genetics· 0 citations
The father-to-daughter transmission of a novel constitutional TUBB variant, alongside literature review of constitutional and mosaic tubulinopathies, suggest that pathogenic germline TUBB variants can occasionally be inherited.
E. Cellini, D. Mei, Mara Cavallin et al.· American Journal of Medical...· 0 citations
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