Results 31 to 40 of about 31,323 (242)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Childhood Absence Epilepsy [PDF]

open access: yesNeurology, 2013
A 7-year-old female presented with brief episodes of staring that lasted for a few seconds. These episodes recurred multiple times throughout the day. She was taken to her primary care physician when she suddenly stopped walking in the middle of a busy intersection.
openaire   +3 more sources

Long-Term Follow-Up of Juvenile Myoclonic Epilepsy

open access: yesPediatric Neurology Briefs, 2006
A population of 257 juvenile myoclonic epilepsy (JME) patients and family members was prospectively evaluated in a study at UCLA School of Medicine and international centers.
J Gordon Millichap
doaj   +1 more source

Self-limited epilepsy with autonomic seizures: A case report

open access: yesSAGE Open Medical Case Reports, 2023
Self-limited epilepsy with autonomic seizures, formerly known as benign occipital epilepsy of childhood or Panayiotopoulos syndrome is a focal epilepsy that is part of the epileptic syndromes with onset during childhood.
Juan David Roa   +4 more
doaj   +1 more source

Long-Term Effectiveness of Ethosuximide, Valproic Acid and Lamotrigine in Absence Epilepsy

open access: yesPediatric Neurology Briefs, 2012
Researchers at Seoul National University Bundang and Children’s Hospitals, Republic of Korea evaluated the long-term effectiveness and tolerability of ethosuximide (ESX), valproic acid (VPA), and lamotrigine (LTG) as initial monotherapies for patients ...
J Gordon Millichap
doaj   +1 more source

Dynamics of epileptic activity in a peculiar case of childhood absence epilepsy and correlation with thalamic levels of GABA

open access: yesEpilepsy and Behavior Case Reports, 2016
Objectives: Childhood absence epilepsy (CAE) is a syndrome with well-defined electroclinical features but unknown pathological basis. An increased thalamic tonic GABA inhibition has recently been discovered on animal models (Cope et al., 2009), but its ...
Alberto Leal   +6 more
doaj   +1 more source

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

open access: yesFrontiers 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   +20 more
doaj   +1 more source

Heterogenity of childhood absence epilepsies

open access: yesV.M. BEKHTEREV REVIEW OF PSYCHIATRY AND MEDICAL PSYCHOLOGY, 2021
Summary. In connection with the growing volume of scientific data on the genetic problems of generalized epilepsy in recent decades, the ambiguity of the therapeutic tactics and prognosis of this cohort of patients has become obvious based solely on the phenotypic characteristics of the patient.
F. I. Gusyakov   +3 more
openaire   +3 more sources

Effects of Probiotic Consumption on Absence Seizures

open access: yesArchives of Epilepsy, 2017
Objectives:Probiotics are microorganisms of intestinal microflora that are beneficial for human health. Childhood absence epilepsy has 2 validated rat models: Genetic Absence Epilepsy Rats from Strasbourg (GAERS) and Wistar Albino Glaxo from Rijswijk ...
Serdar AKKOL   +5 more
doaj   +1 more source

Childhood Absence Epilepsy: Evolution and Prognostic Factors [PDF]

open access: yesEpilepsia, 2005
Summary:  Purpose: To evaluate how diagnostic criteria influence remission rates for patients with childhood absence epilepsy (CAE) and to assess clinical and EEG parameters as predictors of outcome. Methods: One hundred nineteen patients were diagnosed with CAE, according to International League Against Epilepsy (ILAE) classification criteria.
GROSSO, S.   +7 more
openaire   +3 more sources

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