It is found that most neurological applications remain patient-specific simulations or proto-twins rather than clinically mature digital twins, and prospective evidence of decision impact are usually absent, and digital twins should be positioned as clinician-supervised decision-support systems, not autonomous substitu...
M. E. Canepa, Gianmichele Villano, L. Ramenghi et al.· Advanced Technology in Neuro...· 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
The findings support ATP6V0C as a relevant gene in the landscape of childhood epilepsies with fever sensitivity and highlight the importance of accurate molecular diagnosis in children presenting with fever-sensitive seizures, with potential implications for future precision therapies.
F. Tanganelli, Maria Francesca Di Feo, Francesca Madia et al.· Seizure· 0 citations
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
An integrative study combining Mendelian genetics, clinical and association studies, and animal and molecular modeling supports variants in ELAVL2 as a cause of a neurodevelopmental disorder, with haploinsufficiency as the disease mechanism, and identifies crucial roles of ELAVL2 in neuronal function, cognition, and be...
Marina Boon, Meghan R. Mulligan, Jolijn J. A. Verseput et al.· American Journal of Human Ge...· 0 citations
This review synthesizes contemporary insights into the genetic and molecular pathophysiology of seizures and epilepsy, with emphasis on mechanisms that destabilize excitation–inhibition balance, promote epileptogenesis, and drive pharmacoresistance and supports more refined approaches to epilepsy classification and fut...
Mohammad Reza Seyedtaghia, Jina Babanzadeh, M. Scala et al.· Epilepsia Open· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
