Results 31 to 40 of about 3,613 (236)

Interictal EEG features as computational biomarkers of West syndrome [PDF]

Frontiers in Pediatrics
BackgroundWest syndrome (WS) is a devastating epileptic encephalopathy with onset in infancy and early childhood. It is characterized by clustered epileptic spasms, developmental arrest, and interictal hypsarrhythmia on electroencephalogram (EEG ...
Jiaqing Li, An-an Ping, Yalan Zhou, Tangfeng Su, Xiaoli Li, Sanqing Xu   +5 more
doaj   +2 more sources

Short-Term Changes in Hypsarrhythmia Assessed by Spectral Analysis: Group and Individual Assessments. [PDF]

Clin EEG Neurosci
Farinha JM, Bartel PR, Becker PJ, Hazelhurst LT.   +3 more
europepmc   +3 more sources

Dental Considerations and Treatment Approaches in West Syndrome—Infantile Spasms: A Case Report [PDF]

Journal of South Asian Association of Pediatric Dentistry, 2023
Introduction: West syndrome (WS) comprises a classic triad of infantile spasms (ISs), hypsarrhythmia, and psychomotor delay. It is considered a rare epileptic encephalopathy typical to manifest in infancy or early childhood.
Amit Khatri, Namita Kalra, Rishi Tyagi, Deepak Khandelwal, Shruti V Kulkarni, Neetu Garg, Khadeeja Kulood   +6 more
doaj   +1 more source

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
core   +2 more sources

Early transient dysautonomia predicts the risk of infantile epileptic spasm syndrome onset: A prospective cohort study

Frontiers in Neurology, 2022
BackgroundInfantile epileptic spasm syndrome (IESS) is an age-dependent epileptic encephalopathy with a significant risk of developmental regression. This study investigates the association between heart rate variability (HRV) in infants at risk of IESS ...
Ipsita Goswami, Bryan Maguire, Vann Chau, Vann Chau, Emily W. Tam, Emily W. Tam, Elana Pinchefsky, Robyn Whitney, Diane Wilson, Steven P. Miller, Steven P. Miller, Miguel A. Cortez, Miguel A. Cortez   +12 more
doaj   +1 more source

Epileptic spasms in infants: can video-EEG reveal the disease’s etiology? A retrospective study and literature review

Frontiers in Neurology, 2023
ObjectiveEpileptic spasms are a type of seizure defined as a sudden flexion or extension predominantly of axial and/or truncal limb muscles that occur with a noticeable periodicity. Routine electroencephalogram supports the diagnosis of epileptic spasms,
Raffaele Falsaperla, Raffaele Falsaperla, Sarah Sciuto, Grete Francesca Privitera, Lucia Giovanna Tardino, Giuseppe Costanza, Alessandra Di Nora, Roberto Horacio Caraballo, Martino Ruggieri   +8 more
doaj   +1 more source

Burst suppression pattern on EEG in West syndrome in an infant with heterozygous variant in the CACNA1A gene

Annals of Medical Science and Research, 2023
West syndrome is a severe epilepsy syndrome characterized by the classical triad of infantile spasms, hypsarrhythmia on electroencephalography (EEG) and psychomotor retardation.
Nikhil Gladson, Sheetal Sasikumar, Jiya Thankam Koshy   +2 more
doaj   +1 more source

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

, 2010
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of L-{alpha}-aminoadipic semialdehyde/L-{Delta}
Adam, Basura, Baxter, Bennett, Bernhard Schmitt, Cheryl Hemingway, Clayton, Clayton, Cornelis Jakobs, Eduard A. Struys, Emma J. Footitt, Ernst Christensen, François Feillet, Gallagher, Gospe, Goto, Hoffmann, Hunt, Janet Rennie, Kaczorowska, Kanno, Karin Tuschl, Kevin A. Mills, Kim, Kluger, Kurlemann, Lauras, M. Imelda Hughes, Mike G. Pike, Mills, Nabbout, Neil Marlow, Olivier Dulac, Ormazabal, Pascale De Lonlay, Peduto, Perozich, Peter Baxter, Peter T. Clayton, Philippa B. Mills, Plecko, Plecko, Rankin, Rima Nabbout, Salomons, Sameer M. Zuberi, Sarah Aylett, Sophia Varadkar, Striano, Tang, William J. Craigen   +50 more
core   +11 more sources

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
core   +2 more sources

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