Results 41 to 50 of about 1,575,471 (293)
Molecular Oncology, EarlyView.Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche +10 more
wiley +1 more source
Juvenile myoclonic epilepsy as a spectrum disorder: A focused review
, 2021 In consequence of newer research juvenile myoclonic epilepsy (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially known yet.
Wolf, Peter, Baykan, BETÜL
core +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Demonstration project on epilepsy in Brazil - WHO/ILAE/IBE Global Campaign Against Epilepsy - A foreword [PDF]
, 2007 In 2002, ASPE (Assistência à Saúde de Pacientes com Epilepsia)* initiated an Epilepsy Demonstration Project (DP) in Brazil as part of the Global Campaign Against Epilepsy "Epilepsy out of the Shadows", led by the World Health Organization (WHO), the ...
Sander, JW +9 more
core +1 more source
Gabapentin Monotherapy for Partial Seizures
Pediatric Neurology Briefs, 1998 A randomized double-blind trial of gabapentin monotherapy in patients with newly diagnosed partial epilepsy was conducted by an international study group.
J Gordon Millichap
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen +7 more
wiley +1 more source
Progress in the Genetics of the Partial Epilepsies [PDF]
Epilepsia, 2001 Summary: The importance of genetic contributions to the partial epilepsies is now well established. Evidence for this genetic contribution has come from familial aggregation studies, twin studies, positional cloning of specific genes that raise risk, and clinical descriptions of families.
openaire +2 more sources
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Ictal ECG changes in temporal lobe epilepsy. [PDF]
, 1995 Changes in cardiac rhythm may occur during epileptic seizures and this has been suggested as a possible mechanism for sudden unexpected death amongst patients with chronic epilepsy (SUDEP).
Sander, JW, Roche, J, Li, LM
core
Archives of Epilepsy, 2021 Objectives:Brain volume is important in many diseases for both children and adults. Studies examining brain volume in terms of seizure types are less although several studies examining brain volume on healthy and epileptic children are available.
Saliha Seda ADANIR +2 more
doaj +1 more source