Results 31 to 40 of about 412,527 (171)

5,10-Methylenetetrahydrofolate Reductase Deficiency and Myoclonic Epilepsy

Pediatric Neurology Briefs, 2014
Investigators from the Children's Hospital of Philadelphia, PA, and McGill University, Montreal, Quebec, CA, report an adolescent learning-disabled girl who presented at age 14 years with an epilepsy syndrome initially diagnosed as juvenile myoclonic ...
J Gordon Millichap, John J Millichap
doaj   +1 more source

Novel Genetic Locus for Generalized Tonic Clonic Epilepsy within the Juvenile Myoclonic Epilepsy Syndrome

Pediatric Neurology Briefs, 2005
A genome-wide scan of a large family with juvenile myoclonic epilepsy (JME), seen at the All India Institute of Medical Sciences, New Delhi, was conducted to test an hypothesis that 2 loci, one predisposing to generalized tonic clonic seizures (GTCS) and
J Gordon Millichap
doaj   +1 more source

Neuropsychology and behavior in juvenile myoclonic epilepsy

, 2013
Following decades of neglect, there has been an increasing interest in the behavioral aspects of juvenile myoclonic epilepsy (JME) in the recent literature.
Feucht, Martha, Hermann, Bruce, Yacubian, Elza Márcia Targas [UNIFESP], Schmitz, Bettina, Trimble, Michael   +4 more
core   +1 more source

Epidemiology of juvenile myoclonic epilepsy

Неврология, нейропсихиатрия, психосоматика, 2017
The article presents information on the definition of juvenile myoclonic epilepsy (JME) and current epidemiological data concerning its prevalence in Russia and foreign countries.Objective: to study the available publications on the epidemiological ...
O. S. Shilkina, N. A. Schnaider
doaj   +1 more source

Functional connectivity disturbances of ascending reticular activating system and posterior thalamus in juvenile myoclonic epilepsy in relation with photosensitivity: A resting-state fMRI study

, 2021
Objective: Juvenile myoclonic epilepsy (JME) is typified by the occurrence of myoclonic seizures after awakening, though another common trait is myoclonic seizures triggered by photic stimulation.
Demiralp, Tamer, Eryürek, Kardelen, Ulaşoglu Yıldız, Çiğdem, Harı, Emre, Bebek, Nerses, Kurt, Elif, Ur Özçelik, Emel, Ay, Ulaş, Baykan, Betül, Şirin, Nermin Görkem, Çiğdem Ulaşoglu Yıldız, Emel Ur Özçelik, Emre Harı, Tamer Demiralp, Nermin Görkem Şirin, Nerses Bebek, Ulaş Ay, Elif Kurt, Betül Baykan, Kardelen Eryürek   +19 more
core   +1 more source

Juvenile myoclonic epilepsy: neurophysiological aspects

Неврология, нейропсихиатрия, психосоматика, 2018
The review presents an update on the electroencephalographic characteristics and neurophysiology of juvenile myoclonic epilepsy (JME) in Russia and foreign countries.Materials and methods.
O. S. Shilkina, N. A. Shnaider, D. V. Dmitrenko, K. T. Kim   +3 more
doaj   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Spinal Muscular Atrophy With Myoclonic Epilepsy

, 2017
Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
Faik BUDAK, Buket ÖZKARA, Ozkara, Buket, Budak, Faik   +3 more
core   +1 more source

Genetically proxied gut microbiota, gut metabolites with risk of epilepsy and the subtypes: A bi-directional Mendelian randomization study

Frontiers in Molecular Neuroscience, 2022
BackgroundAn increasing number of observational studies have revealed an association among the gut microbiota, gut metabolites, and epilepsy. However, this association is easily influenced by confounders such as diet, and the causality of this ...
Yuzhen Ouyang, Yuzhen Ouyang, Yuzhen Ouyang, Yu Chen, Yu Chen, Ge Wang, Ge Wang, Ge Wang, Yanmin Song, Yanmin Song, Haiting Zhao, Haiting Zhao, Haiting Zhao, Bo Xiao, Bo Xiao, Bo Xiao, Zhuanyi Yang, Zhuanyi Yang, Lili Long, Lili Long, Lili Long   +20 more
doaj   +1 more source

HYPERCONNECTIVITY IN JUVENILE MYOCLONIC EPILEPSY - A NETWORK ANALYSIS

, 2022
HYPERCONNECTIVITY IN JUVENILE MYOCLONIC EPILEPSY - A NETWORK ...
K Hamandi (10456454), R Powell (9390179), D Jones (7681196), Karen Caeyenberghs (13078329)   +3 more
core