Results 191 to 200 of about 8,257 (246)

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review. [PDF]

Dev Med Child Neurol
Innes EA, Han VX, Patel S, Farrar MA, Gill D, Mohammad SS, Dale RC.   +6 more
europepmc   +1 more source

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?

Journal of Neuroscience Research, Volume 104, Issue 8, August 2026.
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Jenny Lange, Erica Zhao, Ellie O'Connell, Olivia Gillham, Amy McTague   +4 more
wiley   +1 more source

Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a <i>de novo</i> variant: a case report and literature review. [PDF]

Front Pediatr
Zhu GQ, Yao Y, Yang LY, Hua Y, Li GM.
europepmc   +1 more source

Novel Clinical and Neurophysiological Insights in Neonatal‐Onset 3‐Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
This report expands the limited available data on type VIII 3‐methylglutaconic aciduria (MGCA8), a neurodegenerative disorder which involves biallelic pathogenic variants of HTRA2 gene. The mutation of this gene leads to mitochondrial dysfunction and altered apoptosis regulation, especially in the brain.
Barbara Belmessieri, Sara Brunetti, Laura Malerba, Paola Martelli, Lucio Giordano, Massimo Plumari, Edoardo Errichiello, Patrizia Accorsi   +7 more
wiley   +1 more source

Association Between Scalp High-Frequency Oscillations and Burden of Amplitudes and Epileptiform Discharges (BASED) Scores in Infantile Epileptic Spasms Syndrome. [PDF]

Biomolecules
Maeda K, Tsuboi H, Hosoda N, Fukumoto J, Fujita S, Yamaguchi S, Ichino N, Osakabe K, Sugimoto K, Furukawa G, Ishihara N.   +10 more
europepmc   +1 more source

Disparities in the utilization of genetic testing for non-acquired infantile epileptic spasms syndrome in a single healthcare center in North Carolina. [PDF]

Epilepsia Open
Marzouki KE, Jenkins BK, Tsujimoto TM, Jiang H, Cardwell EB, Arhin M, Eyo U, Gonzalez-Rodriguez C, Peck S, Lin FC, Hunter SE.   +10 more
europepmc   +1 more source

Association of serum insulin-like growth factor-1 and adrenocorticotropic hormone therapeutic response in patients with infantile epileptic spasms syndrome. [PDF]

Front Pharmacol
Lin KN, Han F, Wang YY, Zhao W, Wang JW, Li H, Zhou YQ.   +6 more
europepmc   +1 more source

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations. [PDF]

Brain Commun
Coleman M, Wang M, Snell P, Lee WS, D'Arcy C, Mignone C, Pope K, Gillies G, Maixner W, Wray A, Harvey AS, Simons C, Leventer RJ, Stephenson SEM, Lockhart PJ, Howell KB.   +15 more
europepmc   +1 more source

Computational EEG attributes predict response to therapy for epileptic spasms. [PDF]

Clin Neurophysiol
Rajaraman RR, Smith RJ, Oana S, Daida A, Shrey DW, Nariai H, Lopour BA, Hussain SA.   +7 more
europepmc   +1 more source

Issue Information

Epilepsia Open, Volume 11, Issue 4, Page 1067-1074, August 2026.
wiley   +1 more source