Results 81 to 90 of about 12,236 (230)

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Vigabatrin Intractable Epilepsy

Pediatric Neurology Briefs, 1992
The relationship between vigabatrin dosage and plasma concentrations, platelet GABA-transaminase inhibition and seizure reduction in 16 children with refractory epilepsy was studied at the University of Cantabria, Santander, Spain.
J Gordon Millichap
doaj   +1 more source

Treatment of infantile spasms: emerging insights from clinical and basic science perspectives. [PDF]

, 2011
Infantile spasms is an epileptic encephalopathy of early infancy with specific clinical and electroencephalographic (EEG) features, limited treatment options, and a poor prognosis.
Arnason, Barry GW, Baram, Tallie Z, Catania, Anna, Cortez, Miguel A, Glauser, Tracy A, Pranzatelli, Michael R, Riikonen, Raili, Rogawski, Michael A, Shinnar, Shlomo, Stafstrom, Carl E, Swann, John W   +10 more
core   +2 more sources

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, EarlyView.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source

The ketogenic diet alters microbiome‐metabolome profiles to improve West syndrome therapy

Pediatric Investigation, EarlyView.
The ketogenic diet alleviates West syndrome by reshaping gut microbiota (increasing Bacteroides, Parabacteroides, and reducing Escherichia and Bifidobacterium), and modulating metabolites—including anticonvulsant lipids (e.g., capric acid), suppressed harmful lipids (e.g., 2‐methylbutyroylcarnitine), and amino acids and analogs (e.g., 3‐sulfinoalanine)—
Gan Xie, Qian Zhou, Jianxiang Liao, Yuejie Zheng, Wenjian Wang, Kunling Shen   +5 more
wiley   +1 more source

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency [PDF]

JIMD Rep
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Kiss S, Leventer R, Duff C, Macdonald‐Laurs E, Quinn O, Nazer F, Cao M, Srikumar A, Dalina J, Eggington M, Lee J.   +10 more
europepmc   +2 more sources

Trends in long-term prescribing of dependence forming medicines [PDF]

, 2019
Using patient-level primary care data to estimate the extent to which antidepressant medicines are prescribed to people continuously for long periods of time.
McManus, S., Nguyen, A., Sehmi, R., Smith, N.   +3 more
core  

Midbrain dopamine neurons sustain inhibitory transmission using plasma membrane uptake of GABA, not synthesis [PDF]

, 2014
Synaptic transmission between midbrain dopamine neurons and target neurons in the striatum is essential for the selection and reinforcement of movements. Recent evidence indicates that nigrostriatal dopamine neurons inhibit striatal projection neurons by
Gu, Chenghua, Oh, Won-Jong, Sabatini, Bernardo L, Tritsch, Nicolas X   +3 more
core   +1 more source

Treatment of pediatric epilepsy

Pediatric Investigation, EarlyView.
Anti‐seizure medications are the first‐line treatment for the vast majority of children with epilepsy, with the advantages of non‐invasive wide adaptability. Surgery is the main treatment for drug‐resistant epilepsy and lesion‐related epilepsy, which can cure some cases of epilepsy in children. A ketogenic diet is often an add‐on therapy.
Junxiao Li, Tinghong Liu, Chang Liu, Jie Deng, Shijie Wu, Suhui Kuang, Xiaotong Li, Zhirong Wei, Shuli Liang   +8 more
wiley   +1 more source

Subchronic treatment with antiepileptic drugs modifies pentylenetetrazol-induced seizures in mice: Its correlation with benzodiazepine receptor binding

Neuropsychiatric Disease and Treatment, 2008
Luisa RochaPharmacobiology Department, Center for Research and Advanced Studies, Calz, Tenorios, MéxicoAbstract: Experiments using male CD1 mice were carried out to investigate the effects of subchronic (daily administration for 8 days ...
Luisa Rocha
doaj