Results 41 to 50 of about 152,711 (286)

A team science approach to discover novel targets for infantile spasms (IS)

Epilepsia Open, 2021
Infantile spasms (IS) is a devastating epilepsy syndrome that typically begins in the first year of life. Symptoms consist of stereotypical spasms, developmental delay, and electroencephalogram (EEG) that may demonstrate Hypsarhythmia.
The CURE Infantile Spasms Consortium, CURE Staff, Laura Lubbers, Sloka S. Iyengar   +2 more
doaj   +1 more source

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]

, 2017
Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.
Baker, K, Clayton-Smith, J, Dabir, T, DDD Study, Evers, JMG, Josifova, D, Joss, S, Kerr, B, Kraus, A, Laskowski, RA, McEntagart, M, Morton, J, O'Brien, S, Smith, A, Splitt, M, Suri, M, Thornton, JM, Wright, CF   +17 more
core   +2 more sources

The early electroclinical manifestations of infantile spasms: A video EEG study

Annals of Indian Academy of Neurology, 2016
Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG) changes are sparse in the literature.
Mary Iype, Puthuvathra Abdul Mohammed Kunju, Geetha Saradakutty, Devi Mohan, Shahanaz Ahamed Mohammed Khan   +4 more
doaj   +1 more source

Limited efficacy of zonisamide in the treatment of refractory infantile spasms

Epilepsia Open, 2020
A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. Using a large single‐center cohort of children with infantile spasms, we set out to evaluate the efficacy and safety of ...
Shaun A. Hussain, Mario Navarro, Jaeden Heesch, Matthew Ji, Brenda Asilnejad, Haley Peters, Rajsekar R. Rajaraman, Raman Sankar   +7 more
doaj   +1 more source

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [PDF]

, 2019
BACKGROUND: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of ...
Cho SY, Corsello G, Falsaperla R., Jin DK, Marino S, Marino SD, Pappalardo XG, Pavone P, Ruggieri M   +8 more
core   +1 more source

Clinical profile and treatment of infantile spasms using vigabatrin and ACTH - a developing country perspective

BMC Pediatrics, 2010
Background Infantile spasms represent a serious epileptic syndrome that occurs in the early infantile age. ACTH and Vigabatrin are actively investigated drugs in its treatment.
Ishaque Sidra, Gulab Shamshad, Ibrahim Shahnaz, Saleem Taimur   +3 more
doaj   +1 more source

Short term outcomes of topiramate monotherapy as a first-line treatment in newly diagnosed West syndrome [PDF]

, 2011
PurposeTo investigate the efficacy of topiramate monotherapy in West syndrome prospectively.MethodsThe study population included 28 patients (15 male and 13 female children aged 2 to 18 months) diagnosed with West syndrome. After a 2-week baseline period
Gyu Min Lee, Kyung Suk Lee, Eun Hye Lee, Sajun Chung   +3 more
core   +1 more source

Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents [PDF]

, 2012
Background Infantile spasms (IS; West syndrome) is a severe form of encephalopathy that typically affects infants younger than 2 years old. Pediatricians, pediatric neurologists, and other pediatric health care providers are all potentially key early ...
Gibson, Patricia A., Hardin, Maria, Luther Rosbeck, Kari, O’Dell, Christine, Pellock, John M., Wheless, James W., Whittemore, Vicky   +6 more
core   +2 more sources

Clinical characteristics of children with infantile epileptic spasms syndrome from a tertiary-care hospital in Dhaka, Bangladesh

Heliyon, 2023
Background: We describe patient characteristics and response to initial treatment in a large case series of children presenting with infantile epileptic spasms syndrome to a tertiary-care hospital with a pediatric neurology service in Bangladesh.
Christina Briscoe Abath, Narayan Chandra Saha, Seikh Azimul Hoque, Ariful Islam, Yamin Shahriar Chowdhury, Mosammat Shameem Ara Begum, Tahera Sultana Davalji Kanjiker, Christopher J. Yuskaitis, Chellamani Harini, Md Badrul Alam, Quazi Deen Mohammed, Maitreyi Mazumdar   +11 more
doaj   +1 more source

Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine

Genes
Infantile epileptic spasms syndrome (IESS) is a devastating developmental epileptic encephalopathy (DEE) consisting of epileptic spasms, as well as one or both of developmental regression or stagnation and hypsarrhythmia on EEG.
Hannah E. Snyder, P. Jain, R. Ramachandrannair, Kevin C. Jones, Robyn Whitney   +4 more
semanticscholar   +1 more source