Results 91 to 100 of about 403,746 (315)
Русский журнал детской неврологии, 2016 Juvenile myoclonic epilepsy (JME) is a type of adolescent-onset idiopathic generalized epilepsy with the appearance of massive myoclonic seizures and, in most cases, generalized convulsions occurring chiefly in the period after awakening.
K. Yu. Mukhin +5 more
doaj +1 more source
, 2016 PURPOSE: The purpose of this study was to describe a series of patients with ictal crying to estimate its occurrence and characterize the clinical features and the underlying etiology.
Asadi-Pooya, Ali Akbar +2 more
core +2 more sources
Capturing what matters: Patient‐reported LGI1‐ANTibody encephalitis outcome RatiNg scale (LANTERN)
Annals of Clinical and Translational Neurology, EarlyView.Abstract Background LGI1‐antibody encephalitis (LGI1‐Ab‐E) is a common form of autoimmune encephalitis where most patients demonstrate ‘good’ clinician‐rated outcomes. However, more targeted questionnaires reveal numerous debilitating symptoms for many years.
Mark J Kelly +9 more
wiley +1 more source
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023 Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler +21 more
wiley +1 more source
Open and free EEG datasets for epilepsy diagnosis [PDF]
arXiv, 2021 The Epilepsies are a common, chronic neurological disorder affecting more than 50 million individuals across the globe. It is characterized by unprovoked, recurring (similar or different type) seizures which are commonly diagnosed through clinical EEGs.
arxiv
Training medical students to improve the management of people with epilepsy [PDF]
, 2007 Purpose: To evaluate the knowledge, attitude and perception of medical students prior to and after a training course about epilepsy. Methods: We used a KAP questionnaire with sixty-one questions which assesses knowledge, attitude and practice of epilepsy.
Andrade, MDGG +5 more
core
Olfactory function in focal epilepsies: Understanding mesial temporal lobe epilepsy beyond the hippocampus [PDF]
, 2019 Several lines of research have linked olfactory regions with the pathophysiology of focal epilepsies. Among those regions, the piriform cortex represents the major part of the primary olfactory cortex.
Aledo Serrano, Angel +6 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Febrile infection related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus with immune dysregulation as a potential pathologic mechanism. Despite promising results from second‐line immunomodulators, approximately 30% remain refractory to treatment.
Kristen S. Fisher +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023 Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker +9 more
wiley +1 more source
EENED: End-to-End Neural Epilepsy Detection based on Convolutional Transformer [PDF]
arXiv, 2023 Recently Transformer and Convolution neural network (CNN) based models have shown promising results in EEG signal processing. Transformer models can capture the global dependencies in EEG signals through a self-attention mechanism, while CNN models can capture local features such as sawtooth waves. In this work, we propose an end-to-end neural epilepsy
arxiv