• Advanced large language models exhibited superior diagnostic accuracy compared to clinicians, particularly for rare diseases, with Claude‐3.5 Sonnet and o1‐preview demonstrating the highest consistency between query iterations. ABSTRACT Importance Rigorous evaluation of large language models (LLMs) in pediatric diagnosis using authentic clinical ...
Cristian Launes +12 more
wiley +1 more source
Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity. [PDF]
Amanallah MR +3 more
europepmc +1 more source
Development and validation of a machine learning model to predict prognostic outcomes in infantile epileptic spasms syndrome. [PDF]
Zuo C +6 more
europepmc +1 more source
A Rare Case of Dual De Novo Mutations Presenting With Infantile Spasms, Congenital Contractures, and Axial Hypotonia. [PDF]
Fakih H.
europepmc +1 more source
Ketogenic drug tricaprilin (CER-0001) for the treatment of refractory infantile epileptic spasms: a phase 1/2a study. [PDF]
Cantillon M +7 more
europepmc +1 more source
Targeting CRHR1 Signaling in Experimental Infantile Epileptic Spasms Syndrome: Evidence for Route-Dependent Efficacy. [PDF]
Chachua T +5 more
europepmc +1 more source
Infantile epileptic spasms syndrome: Mechanisms and therapeutic approaches. [PDF]
Stafstrom CE.
europepmc +1 more source
WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review. [PDF]
Sapuppo A +7 more
europepmc +1 more source
The Enigma of West Syndrome: A Case of Infantile Spasms Without Genetic Clues. [PDF]
Ammar AR +4 more
europepmc +1 more source
Parameter-efficient convolutional neural network for drug treatment outcome studies of pediatric epilepsy. [PDF]
Zhao C +10 more
europepmc +1 more source

