Results 61 to 70 of about 579,040 (322)
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
New England Journal of Medicine, 2017 BACKGROUND Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding drug‐resistant focal epilepsy.
I. Blumcke +70 more
semanticscholar +1 more source
Heterozygous variants in AP4S1 are not associated with a neurological phenotype
Annals of Clinical and Translational Neurology, EarlyView.Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz +9 more
wiley +1 more source
MMWR. Morbidity and mortality weekly report, 2017 Epilepsy, a brain disorder leading to recurring seizures, has garnered increased public health focus because persons with epilepsy experience pronounced and persistent health and socioeconomic disparities despite treatment advances, public awareness ...
M. Zack, R. Kobau
semanticscholar +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown.
Robin W. van Steenhoven +14 more
wiley +1 more source
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
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Frontiers in Neurology, 2022 This review aims to provide an updated perspective of epilepsy genetics and precision medicine in adult patients, with special focus on developmental and epileptic encephalopathies (DEEs), covering relevant and controversial issues, such as defining ...
Álvaro Beltrán-Corbellini +8 more
doaj +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
Epilepsia, 2001 The International League Against Epilepsy (ILAE) made a major contribution when it established standardized classifications and terminology for epileptic seizures and syndromes. This provided a universal vocabulary that not only facilitated communication
J. Engel
semanticscholar +1 more source
Nature Communications, 2020 Epilepsy is one of the most common neurological disorders, yet its pathophysiology is poorly understood due to the high complexity of affected neuronal circuits.
U. Pfisterer +15 more
semanticscholar +1 more source