Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing. [PDF]
Epilepsia OpenSun Y +6 more
europepmc +1 more source
"Time to Feed the Baby": Should There Be a Paradigm Change in the Treatment of Infantile Epileptic Spasms Syndrome? [PDF]
Epilepsy CurrPhitsanuwong C.
europepmc +1 more source
A novel <i>de novo ATP2B1</i> variant causes autosomal dominant intellectual developmental disorder 66 by disrupting calcium homeostasis via impaired membrane trafficking. [PDF]
Exp Biol Med (Maywood)Zang H, Yang X, Liu Y, Ma C, Yang D.
europepmc +1 more source
The acid-base balance homeostasis reflected by urine pH in children with infantile epileptic spasm syndrome may be associated with response to adrenocorticotropic hormone treatment: a retrospective cohort study. [PDF]
Transl PediatrLi S +5 more
europepmc +1 more source
CMTS-GNN: a cross-modal temporal-spectral graph neural network with cognitive network explainability. [PDF]
Front NeurolWang Y, Meng L, Fan Y.
europepmc +1 more source
Rethinking Corticosteroid Therapy in Pediatric Neurology. [PDF]
J Inflamm ResLin WS.
europepmc +1 more source
Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy. [PDF]
Medicine (Baltimore)Qi L, Fang C, Hu Z.
europepmc +1 more source
Short-Term Outcomes and Immunologic Mechanisms of Adrenocorticotropic Hormone in Infantile Epileptic Spasm Syndrome: A Multicenter Prospective Trial in Southern China. [PDF]
Neurol TherRan Y +15 more
europepmc +1 more source
CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotonia. [PDF]
BMC Med GenomicsSafarian Z +9 more
europepmc +1 more source
Corticotherapy versus adrenocorticotropic hormone for treating West syndrome: a systematic review and meta-analysis. [PDF]
Arq NeuropsiquiatrFarias EH +8 more
europepmc +1 more source