Results 131 to 140 of about 8,236 (231)

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, Volume 68, Issue 8, Page 1063-1071, August 2026.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Development and validation of a machine learning model to predict prognostic outcomes in infantile epileptic spasms syndrome. [PDF]

Front Pediatr
Zuo C, Xue B, Mu X, Cao Z, Zhou H, Liu Z, Sun D.   +6 more
europepmc   +1 more source

Diagnostic Challenges in Choroid Plexus Tumours

Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.
In this review, we summarise the diagnostic spectrum of choroid plexus tumours, highlight key age‐dependent differential diagnoses across infants, children/adolescents and adults, and outline how histopathology, immunohistochemistry and molecular profiling support accurate tumour classification.
Christian Thomas, Martin Hasselblatt
wiley   +1 more source

Efficacy and Safety of Adjunctive Perampanel in Young Children (7-46 Months) With Drug-Resistant Epilepsy: A Real-World Study. [PDF]

CNS Neurosci Ther
Zeng Q, Xia X, Zheng H, Yang L, Jiang L, Hu Y.   +5 more
europepmc   +1 more source

A Rare Case of Dual De Novo Mutations Presenting With Infantile Spasms, Congenital Contractures, and Axial Hypotonia. [PDF]

Cureus
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]

Front Pediatr
Cantillon M, Chen S, McIntyre N, Henderson ST, Riney K, Chan DWS, Lawson J, Chow L.   +7 more
europepmc   +1 more source

Targeting CRHR1 Signaling in Experimental Infantile Epileptic Spasms Syndrome: Evidence for Route-Dependent Efficacy. [PDF]

Children (Basel)
Chachua T, Yum MS, Chern CR, Vieira K, Velíšková J, Velíšek L.   +5 more
europepmc   +1 more source

Infantile epileptic spasms syndrome: Mechanisms and therapeutic approaches. [PDF]

Neurotherapeutics
Stafstrom CE.
europepmc   +1 more source

WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review. [PDF]

Curr Issues Mol Biol
Sapuppo A, Rizzo R, Fusto G, Rocca R, Sortino V, Pappalardo XG, Ruggieri M, Falsaperla R.   +7 more
europepmc   +1 more source

The Enigma of West Syndrome: A Case of Infantile Spasms Without Genetic Clues. [PDF]

Case Rep Pediatr
Ammar AR, Ramah AA, Bodi J, AlZaabi N, Jhancy M.   +4 more
europepmc   +1 more source