Results 111 to 120 of about 3,560 (234)

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
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Teaching Neuro Images : Infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia [PDF]

, 2013
N. Young‐Lin, Sarah Shalev, Orit A. Glenn, Marisa Gardner, Chung Lee, Anthony Wynshaw‐Boris, Amy A. Gelfand   +6 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

Involvement of the Thalamus, Hippocampus, and Brainstem in Hypsarrhythmia of West Syndrome: Simultaneous Recordings of Electroencephalography and fMRI Study [PDF]

, 2022
Yuki Maki, Jun Natsume, Yuji Ito, Yu Okai, Epifanio Bagarinao, Hiroyuki Yamamoto, S. Ogaya, T Takeuchi, Tatsuya Fukasawa, Fumi Sawamura, Takamasa Mitsumatsu, Satoshi Maesawa, Ryuta Saito, Yoshiyuki Takahashi, Hiroyuki Kidokoro   +14 more
openalex   +1 more source

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
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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

Effect of ACTH Therapy for Epileptic Spasms without Hypsarrhythmia [PDF]

, 2005
Hirokazu Oguni, Makoto Funatsuka, Kaori Sasaki, Tae Nakajima, Keisuke Yoshii, Tsutomu Nishimura, Makiko Ōsawa   +6 more
openalex   +1 more source

Decision letter for "Mutation in PHACTR1 Associated with Multifocal Epilepsy with Infantile Spasms and Hypsarrhythmia"

, 2021

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
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Early detection and evolution of hypsarrhythmia in a patient with subcortical band heterotopia

, 2022
Roohi Katyal, Bahareh Sianati, Tasleema Khan, Gozde Erdemir   +3 more
openalex   +2 more sources