Results 31 to 40 of about 2,272,583 (371)
A conundrum of West syndrome, behavioural problems and parental expressed emotions: a case report
General Psychiatry, 2020 West syndrome (WS) is the most common epileptic syndrome in infancy characterised by epileptic spasms, hypsarrhythmia and neurodevelopmental problems. Epileptic spasms remain in many ways a conundrum, and the ideal intervention, as well as how to screen ...
Yogender Kumar Malik +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023 Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings +1 more
wiley +1 more source
Русский журнал детской неврологии, 2015 Epileptic spasms are epileptic seizures with sudden flexion/extension or of the mixed flexion and extension type, mainly involving the proximal and truncal muscles, that are normally longer than myoclonic seizures but shorter than tonic seizures, and ...
K. Yu. Mukhin, M. B. Mironov
doaj +1 more source
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023 Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld +9 more
wiley +1 more source
PLoS ONE, 2022 IntroductionMetabolic syndrome is a group of metabolic risk factors which are associated with an increased risk of cardiovascular disease and type2 diabetes.
Altaseb Beyene Kassaw +3 more
doaj +2 more sources
Русский журнал детской неврологии, 2015 The most important characteristics of resistant epilepsy forms, associated with fever-provoked (febrile) epileptic seizures (Dravet syndrome, DESC — Devastating epileptic encephalopathy in school-aged children, HHE — hemiconvul- sion-hemiplegia-epilepsy ...
M. Yu. Bobylova
doaj +1 more source
Spared cognitive and behavioral functions prior to epilepsy onset in a rat model of 2 subcortical band heteropia [PDF]
Brain Research, Elsevier, 2019, 1711, pp.146-155, 2019 13 Subcortical band heterotopia (SBH), also known as doublecortex syndrome, is a 14 malformation of cortical development resulting from mutations in the doublecortin gene 15 (DCX). It is characterized by a lack of migration of cortical neurons that accumulate in the 16 white matter forming a heterotopic band.
arxiv +1 more source
Epileptic Seizures Detection Using Deep Learning Techniques: A Review [PDF]
International Journal of Environmental Research and Public Health.
2021; 18(11):5780, 2020 A variety of screening approaches have been proposed to diagnose epileptic seizures, using electroencephalography (EEG) and magnetic resonance imaging (MRI) modalities. Artificial intelligence encompasses a variety of areas, and one of its branches is deep learning (DL).
arxiv +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 424-436, February 2023., 2023 Abstract Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein‐Taybi Syndrome (RSTS). However, previous research relied on a cross‐sectional study design turning into age‐related comparisons of different syndromic cohorts to explore age‐dependent changes.
Paola Francesca Ajmone +11 more
wiley +1 more source
Epileptic seizure prediction using Pearson's product-moment correlation coefficient of a linear classifier from generalized Gaussian modeling [PDF]
Neurologia Argentina 2018;10(4):210:217, 2020 To predict an epileptic event means the ability to determine in advance the time of the seizure with the highest possible accuracy. A correct prediction benchmark for epilepsy events in clinical applications is a typical problem in biomedical signal processing that helps to an appropriate diagnosis and treatment of this disease.
arxiv +1 more source