Results 61 to 70 of about 146,603 (292)

Adrenocorticotropic hormone combined with magnesium sulfate therapy for infantile epileptic spasms syndrome: a real-world study

World Journal of Pediatrics, 2023
Infantile epileptic spasms syndrome (IESS) is a serious disease in infants, and it usually evolves to other epilepsy types or syndromes, especially refractory or super-refractory focal epilepsies. Although adrenocorticotropic hormone (ACTH) is one of the
Wen He, Qiuhong Wang, Jiu-Wei Li, Yang-Yang Wang, Xiao-mei Luo, Lin Wan, Jing Wang, Xiuyu Shi, Weihua Zhang, F. Fang, Liping Zou   +10 more
semanticscholar   +1 more source

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

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
core   +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
core   +1 more source

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

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.
core   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
openalex   +2 more sources

Efficacy and safety of corticosteroids and ACTH in epileptic syndromes beyond Infantile Epileptic Spasms Syndrome (IESS): A systematic review and meta‐analysis

Epilepsia
We conducted a systematic review investigating the efficacy and tolerability of adrenocorticotropic hormone (ACTH) and corticosteroids in children with epilepsies other than infantile epileptic spasm syndrome (IESS) that are resistant to anti‐seizure ...
Rudolf Korinthenberg, Thomas Bast, E. Haberlandt, U. Stephani, A. Strzelczyk, G. Rücker   +5 more
semanticscholar   +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
doaj   +1 more source

Seizure Prediction Analysis of Infantile Spasms

IEEE Transactions on Neural Systems and Rehabilitation Engineering, 2023
Infantile spasms (IS) is a typical childhood epileptic disorder with generalized seizures. The sudden, frequent and complex characteristics of infantile spasms are the main causes of sudden death, severe comorbidities and other adverse consequences ...
Runze Zheng, Jiuwen Cao, Yuanmeng Feng, Xiaodan Zhao, Tiejia Jiang, Feng Gao   +5 more
doaj   +1 more source