Results 121 to 130 of about 3,613 (236)

Low Insulin‐Like Growth Factor (IGF‐1) in the Cerebrospinal Fluid of Children with Progressive Encephalopathy, Hypsarrhythmia, and Optic Atrophy (PEHO) Syndrome and Cerebellar Degeneration [PDF]

, 1999
Raili Riikonen, Mirja Somer, Ursula Turpeinen   +2 more
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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome [PDF]

, 2017
Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills etal. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen
Bala, Pronab, Baumgartner, Matthias R., Calvert, Sophie, Camuzeaux, Stephane S.M., Chong, W. Kling, Clayton, Peter T., Das, Krishna B., Del Giudice, Ennio, Feillet, François, Fisher, Laura, Footitt, Emma J., Gissen, Paul, Livingston, John H., Maier, Oliver, McWilliam, Robert, Mills, Kevin A., Mills, Philippa B., Morel, Chantal F., Pitt, Matthew, Plecko, Barbara, Raimondi, Francesco, Riney, Kate, Stödberg, Tommy, Varadkar, Sophia M., Wolf, Nicole I., Zuberi, Sameer   +25 more
core  

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

, 2017
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-α-aminoadipic semialdehyde/l-Δ1 ...
Aylett, Sarah, Baxter, Peter, Christensen, Ernst, Clayton, Peter T., Craigen, William J., De Lonlay, Pascale, Dulac, Olivier, Feillet, François, Footitt, Emma J., Hemingway, Cheryl, Hughes, M. Imelda, Jakobs, Cornelis, Marlow, Neil, Mills, Kevin A., Mills, Philippa B., Nabbout, Rima, Pike, Mike G., Rennie, Janet, Schmitt, Bernhard, Struys, Eduard A., Tuschl, Karin, Varadkar, Sophia, Zuberi, Sameer M.   +22 more
core  

Familial infantile spasms and hypsarrhythmia associated with leucodystrophy [PDF]

, 1966
A. Bignami, F Maccagnani, Michele Zappella, A. H. Tingey   +3 more
openalex   +1 more source

EEG before and after total corpus callosotomy for pharmacoresistant infantile spasms: Fast oscillations and slow‐wave connectivity in hypsarrhythmia [PDF]

, 2019
Shiro Baba, Vasily A. Vakorin, Sam M. Doesburg, Chizuko Nagamori, Miguel A. Cortez, Ryoko Honda, Tomonori Ono, Keisuke Toda, Hanako Nishimoto, Toshihiro Ebihara, Kana Sakai, Ayako Ochi, O. Carter Snead, Hiroshi Baba, Hiroshi Otsubo   +14 more
openalex   +1 more source

Epileptogenic modulation index and synchronization in hypsarrhythmia of West syndrome secondary to perinatal arterial ischemic stroke

, 2021
Hiroharu Suzuki, Hiroshi Otsubo, Nanako Yokota, Sakura Nishijima, Cristina Go, O. Carter Snead, Ayako Ochi, James T. Rutka, Mahendranath Moharir   +8 more
openalex   +1 more source

Current data on early diagnosis of West syndrome. Electroencephalographic evolution of hypsarrhythmia

, 2020
Victoriya A. Aysina, Л. М. Кузенкова, Olga V. Kozhevnikova   +2 more
openalex   +1 more source

The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium [PDF]

, 2017
Scott Demarest, Renée A. Shellhaas, William D. Gaillard, Cynthia Keator, Katherine Nickels, Shaun A. Hussain, Tobias Loddenkemper, Anup D. Patel, Russell P. Saneto, Elaine Wirrell, Iván Sánchez Fernández, Catherine J. Chu, Zachary M. Grinspan, Courtney J. Wusthoff, Sucheta M. Joshi, Ismail Mohamed, Carl E. Stafstrom, Cynthia V. Stack, Elissa Yozawitz, Judith Bluvstein, Rani K. Singh, Kelly G. Knupp   +21 more
openalex   +1 more source

Neuronal networks in children with continuous spikes and waves during slow sleep [PDF]

, 2017
Epileptic encephalopathy with continuous spikes and waves during slow sleep is an age-related disorder characterized by the presence of interictal epileptiform discharges during at least >85% of sleep and cognitive deficits associated with this ...
Boor, Rainer, Brodbeck, Verena, Groening, Kristina, Lemieux, Louis, Michel, Christoph M., Moehring, Jan, Moeller, Friederike, Rodionov, Roman, Siniatchkin, Michael, Stephani, Ulrich   +9 more
core  

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

, 2015
Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes.
Epilepsy Phenome/Genome Project & Epi4K Consortium
core   +1 more source