Results 171 to 180 of about 8,267 (258)

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 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

Trends, Hotspots, and Future Directions of Research on Pain in Dystonia: A Bibliometric Analysis

Brain and Behavior, Volume 15, Issue 10, October 2025.
This bibliometric study, based on 1225 articles on pain in dystonia published between 1981 and 2025 within the Web of Science Core Collection, reveals key trends in the field. The research employed multiple bibliometric analysis tools, including the R package “Bibliometrix,” VOSviewer, and CiteSpace.
Xiaonan Liu, Bin Wu
wiley   +1 more source

Factors Influencing the Response of Patients with Infantile Epileptic Spasms Syndrome to ACTH as Repeated First-Line Therapy. [PDF]

Neurol Ther
Ge W, Pang P, Zhang Z, Wan L, Yang G.
europepmc   +1 more source

Efficacy and safety of corticosteroids and ACTH in epileptic syndromes beyond Infantile Epileptic Spasms Syndrome (IESS): A systematic review and meta‐analysis [PDF]

Rudolf Korinthenberg, Thomas Bast, Edda Haberlandt, Ulrich Stephani, Adam Strzelczyk, Gerta Rücker   +5 more
openalex   +1 more source

COL4A1‐Related Leukoencephalopathy and Microangiopathy: A Case Series of Two Palestinian Siblings

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT We report two Palestinian siblings with a pathogenic COL4A1 mutation, presenting with congenital cataracts, seizures, developmental delay, and antenatal intracerebral hemorrhages. Despite sharing the same genetic variant, they exhibited striking phenotypic variability.
Thkra Meshal, Amal M. Shawabka, Kareem lbraheem, Rosol Iwaiwi, Nissreen E. Thafer, Jinan H. Afana, Ahmad G. Hammouri, Osama Atawneh   +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

Exhaustive clinical examination of etiology and initial response to first‐line treatment in 577 children with infantile epileptic spasm syndrome children: A 5‐year retrospective observational study [PDF]

Lin Wan, Wenrong Ge, Guoyin Liu, Wen He, Yan Liang, Shuo Dun, Huimin Yan, Jian Chen, Gang Zhu, Jing Gao, Xiu‐Yu Shi, Jing Wang, Linyan Hu, Bo Zhang, Li‐Ping Zou, Guang Yang   +15 more
openalex   +1 more source

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

Two familial cases of infantile epileptic spasms syndrome associated with UDP‐glucose‐6‐dehydrogenase deficiency [PDF]

Caroll Suyo Suyo-Suyo, Gabriela Reyes Valenzuela, Sara Melgarejo, Mariana Loos, Matías Juanes, María Sol Touzón, Gustavo A. Angarita, M. Mesa, Cristina N. Alonso, Roberto Caraballo   +9 more
openalex   +1 more source