Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]
, 2020 Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E +30 more
core +2 more sources
Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]
, 2014 Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
core +2 more sources
On-Off Intermittency in Time Series of Spontaneous Paroxysmal Activity in Rats with Genetic Absence Epilepsy [PDF]
, 2006 Dynamic behavior of complex neuronal ensembles is a topic comprising a streamline of current researches worldwide. In this article we study the behavior manifested by epileptic brain, in the case of spontaneous non-convulsive paroxysmal activity.
Alexander Hramov +10 more
core +3 more sources
Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]
, 2014 Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J +2 more
core +1 more source
The pharmacokinetics of vigabatrin in rat blood and cerebrospinal fluid [PDF]
, 2006 SummaryPurposeData on the blood pharmacokinetics of vigabatrin, an antiepileptic drug with a unique and novel mechanism of action, in the rat are sparse. Additionally, little is known of the kinetics of vigabatrin in the central cerebrospinal fluid (CSF)
Patsalos, P.N., Ratnaraj, N., Tong, X.
core +1 more source
Emerging pharmacotherapy of tinnitus [PDF]
, 2009 Tinnitus, the perception of sound in the absence of an auditory stimulus, is perceived by about 1 in 10 adults, and for at least 1 in 100, tinnitus severely affects their quality of life.
Ana Belén Elgoyhen +43 more
core +1 more source
Development of Acute Encephalopathy Due to Vigabatrin Use in a Case of Nonketotic Hyperglycinemia [PDF]
, 2012 A 3-month-old boy with early myoclonic epilepsy owing to nonketotic hyperglycinemia developed acute encephalopathy after - vigabatrin was presented. Due to the use of vigabatrin, the elevated gamma-aminobutyric acid (GABA) concentration in the brain ...
Elif YÜKSEL KARATOPRAK, Sema SALTIK
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Suicidal behavior and antiepileptic drugs in epilepsy: analysis of the emerging evidence. [PDF]
, 2011 Two years after the warning issued by the Food and Drug Administration on an increased risk of suicide for people taking antiepileptic drugs (AEDs), a number of pharmacoepidemiologic studies have been published but the scientific community is far from ...
Hesdorffer, DC, Mula, M
core +3 more sources
Vigabatrin-Induced Peripheral Visual Field Defects in Patients With Refractory Partial Epilepsy [PDF]
, 2010 Purpose: Vigabatrin can cause retinopathy, resulting in bilateral visual field constriction. Previous analyses of results from a prospective, observational study assessing vigabatrin-induced visual field constriction (described below) employed a ...
Bittman, Richard M. +3 more
core +2 more sources
Clinical profile and treatment of infantile spasms using vigabatrin and ACTH - a developing country perspective [PDF]
, 2010 Background: Infantile spasms represent a serious epileptic syndrome that occurs in the early infantile age. ACTH and Vigabatrin are actively investigated drugs in its treatment.
AL Lux +38 more
core +4 more sources