Results 51 to 60 of about 15,063 (315)

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
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GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy [PDF]

, 2016
The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system.
Ambegaonkar, G, Kurian, MA, McTague, A, Meyer, E, Ngoh, A, Papandreou, A, Scott, RH, Trump, N   +7 more
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Cannabinoids in the treatment of epilepsy: current status and future prospects [PDF]

, 2020
Cannabidiol (CBD) is one of the prominent phytocannabinoids found in Cannabis sativa, differentiating from Δ9-tetrahydrocannabinol (THC) for its non-intoxicating profile and its antianxiety/antipsychotic effects.
Albini M., Cifelli P., Di Bonaventura C., Fanella M., Giallonardo A. T., Morano A., Palma E.   +6 more
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The surgery for epileptic spasms

, 2020
71. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), 9.
Uda, H, Uda, T, Kunihiro, N, Kuki, I, Inoue, T, Nakanishi, Y, Umaba, R, Koh, S, Yamamoto, N, Nagase, S, Nukui, M, Okazaki, S, Kawawaki, H, Sakuma, S, Seto, T, Ohata, K   +15 more
openaire   +1 more source

How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium [PDF]

, 2015
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/111205/1/epi12951 ...
Allen, Berg, Carvill, Epilepsy Commission on Pediatric Epilepsy of the International League Against Epilepsy, Gaillard, Kamien, Liu, Michaud, Mulley, Osborne, Paciorkowski, Pellock, Sidenvall, Torrisi, Trevathan, Wong   +15 more
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Treatment of Symptomatic Infantile Spasms

Pediatric Neurology Briefs, 2013
Investigators at Tokyo Women's Medical University studied the clinical, radiological, and EEG characteristics of 69 patients with infantile spasms (IS) followed for 3-74 months (mean 18 months) after initial cessation of epileptic spasms (ES).
J Gordon Millichap
doaj   +1 more source

A New Rat Model of Epileptic Spasms Based on Methylazoxymethanol-Induced Malformations of Cortical Development

Frontiers in Neurology, 2017
Malformations of cortical development (MCDs) can cause medically intractable epilepsies and cognitive disabilities in children. We developed a new model of MCD-associated epileptic spasms by treating rats prenatally with methylazoxymethanol acetate (MAM)
Eun-Hee Kim, Mi-Sun Yum, Minyoung Lee, Eun-Jin Kim, Woo-Hyun Shim, Tae-Sung Ko   +5 more
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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
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Epileptic Spasms and Partial Seizures Associated with Vitamin B12 Deficiency: Case Report and Literature Review

Archives of Epilepsy, 2017
Epileptic spasms associated with vitamin B12 deficiency are rare. Epileptic spasms in addition to partial seizures due to vitamin B12 deficiency have never been reported in the literature. A 3½-month-old girl presented to clinic with partial seizures and
Uğur IŞIK, Sonay BEYATLI
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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters. [PDF]

, 2017
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesEpileptic encephalopathies are a group of childhood epilepsies that display high
Arnadottir, Gudny A, Arngrimsson, Reynir, Benonisdottir, Stefania, Gudbjartsson, Daniel F, Gudjonsson, Sigurjon A, Jensson, Brynjar O, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Kristjansson, Ragnar P, Magnusson, Olafur Th, Marelsson, Sigurdur E, Masson, Gisli, Oddsson, Asmundur, Saemundsdottir, Jona, Sigurdsson, Asgeir, Stefansson, Kari, Sulem, Gerald, Sulem, Patrick, Thorisson, Gudmundur A, Thorsteinsdottir, Unnur   +19 more
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