Infantile Epileptic Encephalopathy With Multiple Genetic Mutations: How Important are Variants of Undetermined Significance?

The importance of so called variants of undetermined significance in the development of Infantile Epileptic Encephalopathy is discussed and an illustrative case is presented.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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Purpose: Mesial temporal lobe epilepsy (MTLE) and Alzheimer's disease (AD) are two distinct neurological disorders associated with hippocampal atrophy. Our goal is to analyze the morphologic patterns of hippocampal atrophy to better understand the underlying pathological and clinical characteristics of the two conditions.Methods: Twenty-five patients with AD and 20 healthy controls with matched age and gender were recruited into the AD group. Twenty-three MTLE patients and 28 healthy controls with matched age and gender were recruited into the MTLE group. All subjects were scanned on 3T-MRI scanner. Automated volumetric an...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
The objective of the study was to identify the relationship between subcortical gray matter (GM) volumes and juvenile myoclonic epilepsy (JME).MethodsWe analyzed the brain magnetic resonance imaging (MRI) scans that were performed during the time of the diagnosis of epilepsy by using voxel-based morphometry (VBM) method. The volumetric three-dimensional sequence was used for structural investigation. The volumes of the thalamus, caudate nucleus, pallidum, and putamen were measured in both hemispheres of patients with JME, patients with generalized tonic–clonic seizures alone (GTCS) (as a disease control group) and he...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
ConclusionThe risk of injury and seizure exacerbation due to participation in football for patients with epilepsy is low. Clinicians should use their best judgment in deciding whether contact sports increase risks for a particular patient based on individual seizure frequency, concurrent neurological and medical issues, and medication adverse effects.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
This study aimed to investigate the cortical thickness (CT) abnormalities associated with MDD in women with MTLE and hippocampal atrophy (HA). Also, we investigated the impact of MDD upon the volumes of the hippocampus and amygdala in these patients.Methods: We included 50 women with MTLE and HA (20 left, LMTLE; 30 right, RMTLE), 41 healthy women in the control group, and 15 women with MDD without epilepsy. MTLE patients were subdivided into three groups: MTLE-without-MDD (23 MTLE patients without MDD), MTLE-mild-MDD (nine MTLE patients with mild symptoms of MDD), and MTLE-severe-MDD (18 MTLE patients with moderate to seve...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
INTRODUCTION: There is scant evidence to quantify the risk of contact sports such as football to patients with epilepsy. This retrospective review was performed to evaluate the incidence of injuries or seizure exacerbation related to football participation...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
The objective of the study was to identify the relationship between subcortical gray matter (GM) volumes and juvenile myoclonic epilepsy (JME). METHODS: We analyzed the brain magnetic resonance imaging (MRI) scans that were performed during the time of the diagnosis of epilepsy by using voxel-based morphometry (VBM) method. The volumetric three-dimensional sequence was used for structural investigation. The volumes of the thalamus, caudate nucleus, pallidum, and putamen were measured in both hemispheres of patients with JME, patients with generalized tonic-clonic seizures alone (GTCS) (as a disease control group) and ...
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
CONCLUSION: The risk of injury and seizure exacerbation due to participation in football for patients with epilepsy is low. Clinicians should use their best judgment in deciding whether contact sports increase risks for a particular patient based on individual seizure frequency, concurrent neurological and medical issues, and medication adverse effects. PMID: 31931461 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
Functional Magnetic Resonance Imaging (fMRI) is a technique frequently used to determine the territories of eloquent tissue that serve critical functions, such as language. This can be particularly useful as part of the pre-surgical assessment for temporal lobe epilepsy (TLE) in order to predict cognitive outcome and guide surgical decision-making. Whereas language fMRI is widely used, memory fMRI is less frequently employed in adult TLE, and lacking in childhood TLE. We have developed a combined language/memory fMRI paradigm that is suitable for children, to provide clinically useful information for surgical planning in p...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
ConclusionThe pooled estimated prevalence of headache among patients with epilepsy was considerably high (48.4%). Screening and appropriate management of headaches among patients with epilepsy are warranted.
Source: The Journal of Headache and Pain - Category: Neurology Source Type: research
AbstractPurposeThe aim of this study was to investigate if the etiologic classification of infantile spasm (IS) using positron emission tomography/magnetic resonance imaging (PET/MR) is feasible. Based on the classified etiologic groups, we further evaluated the efficacy of adrenocorticotropic hormone (ACTH) therapy in different IS groups.Materials and methodsOne hundred fifty-five children diagnosed with IS were included in this study. A qualitative assessment of the PET/MR images was performed. The abnormal lesions localized with both MR and PET images were considered to be epileptic foci, and the patients with these les...
Source: European Journal of Nuclear Medicine and Molecular Imaging - Category: Nuclear Medicine Source Type: research
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