Results 221 to 230 of about 235,104 (268)

Severe skeletal fragility in SCN8A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In this child with a phenotype compatible with the SCN8A gain‐of‐function spectrum, more than 20 bone fractures were documented. Together with previously reported cases, these observations raise the possibility that skeletal fragility may represent an underrecognized feature of the clinical spectrum associated with pathogenic SCN8A variants ...
Adélia Maria de Miranda Henriques‐Souza, Kette D. Valente   +1 more
wiley   +1 more source

Recurrent Hyperammonemic Encephalopathy in Adults with Citrin Deficiency: A Case Report of Two Genetically Confirmed Cases. [PDF]

J Clin Med
Pham TNQ, Vo VH, Nguyen QH, Trinh TTT, Vo TD.   +4 more
europepmc   +1 more source

Artificial intelligence‐assisted categorization of interictal abnormalities in adult long‐term electroencephalographic monitoring: Comparable diagnostic accuracy with marked efficiency gain

Epilepsia, EarlyView.
Abstract Objective Artificial intelligence (AI) classifies routine electroencephalograms (EEGs) with expert‐level accuracy, but interpretation of long‐term EEG monitoring (LTM) remains reliant on time‐intensive visual review. We evaluated whether autoSCORE, a clinically approved implementation of SCORE‐AI integrated into an EEG reader, achieves expert ...
Daniel Mansilla, Jesper Tveit, Harald Aurlien, Tamir Avigdor, Chifaou Abdallah, Pilar Bosque‐Varela, Melita Cacic Hribljan, Victoria Ros‐Castelló, Donald Schomer, Jean Gotman, Sandor Beniczky, Birgit Frauscher   +11 more
wiley   +1 more source

Fatal Fruit: Unveiling the Risks and Responses to Ackee Poisoning in a South Florida Inpatient Unit. [PDF]

Cureus
Sears SJ, Gondar E, Sowden K, Aquino-Thomas J, Chokshi R.   +4 more
europepmc   +1 more source

Validation of the diagnosis of Lennox–Gastaut syndrome: Challenges and lessons learned

Epilepsia, EarlyView.
Abstract Objective Lennox–Gastaut Syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by multiple seizure types, cognitive impairment, and distinct electroencephalographic (EEG) findings. However, evolving diagnostic criteria, heterogeneous clinical features, and inconsistent electronic health record (EHR) documentation ...
Nicole Villalba, Marc Rosenman, Sandi Lam, Kelly G. Knupp, Liu Lin Thio, William P. Welch, Stephanie C. Randle, Rebecca Garcia‐Sosa, Laurel Reed, Tracy Dixon‐Salazar, Maura Carroll, Anup D. Patel   +11 more
wiley   +1 more source

Beware the Ides of Chemotherapy: A Report on Hyperammonemic Encephalopathy Induced by FOLFOX-6 (5-Fluorouracil, Leucovorin, and Oxaliplatin). [PDF]

Cureus
Ts S, Balaji S, K D, S K, Ts K, Subramanian Y, Paul AJ, Adalarasan S, N J, C H.   +9 more
europepmc   +1 more source

Reply to: Does the generalized paroxysmal fast activity‐underrepresented cluster represent Lennox–Gastaut syndrome or other severe developmental and epileptic encephalopathies?

Epilepsia, EarlyView.
Emanuele Cerulli Irelli, Marco Perulli, Maria S. Borioni, Adolfo Mazzeo, Carlo Di Bonaventura, Domenica I. Battaglia   +5 more
wiley   +1 more source

Reasons for not reoperating and outcomes of reoperation after seizure recurrence in pediatric epilepsy surgery: A population‐based study

Epilepsia, EarlyView.
Abstract Objective Epilepsy surgery is an established and effective treatment for children with drug‐resistant epilepsy. Although the majority of patients become seizure‐free postoperatively, 20%–40% experience seizure recurrence. Although repeat surgery can achieve seizure freedom in selected cases, the reasons children with seizure recurrence do not ...
Vincent Zheng, Atte Karppinen, Eija Gaily, Päivi Koroknay‐Pál, Henri Lehtinen, Eeva‐Liisa Metsähonkala   +5 more
wiley   +1 more source

Beyond Ophthalmoplegia: Wernicke Encephalopathy with Anisocoria. [PDF]

Reports (MDPI)
Ito Y, Hayashi K, Kurihara H, Nakaya Y, Sato M.   +4 more
europepmc   +1 more source