Results 101 to 110 of about 34,036 (286)
Epileptic Disorders, EarlyView.Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin +2 more
wiley +1 more source
Subepidermal calcified nodule in upper eyelid: A case report and review of the literature [PDF]
, 2015 Calcinosis cutis involves the inappropriate deposition of calcium within the dermis layer of the skin and is often associated with autoimmune diseases.
Rehab Monir Samaka +2 more
core +1 more source
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva +29 more
wiley +1 more source
Eyelid retraction during smiling in a patient with monocular congenital ptosis: a case report
BMC OphthalmologyBackground Blepharoptosis is a common symptom in ophthalmology clinic, but eyelid retraction when smiling in a ptosis eye is a rare manifestation. Here we report a novel manifestation that eyelid retraction during smiling in a patient with monocular ...
Yiyang Zhao, Jing Fu, Jie Hao
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective This study was undertaken to estimate the prevalence and characterize the semiology of co‐occurring functional/dissociative seizures (FDSs) and identify clinical features potentially associated with the development of video‐electroencephalography (video‐EEG)‐diagnosed FDSs in patients with idiopathic generalized epilepsy (IGE ...
Javier Peña‐Ceballos +13 more
wiley +1 more source
A prospective natural history study protocol for clinical trial readiness in synaptic disorders
Epilepsia, EarlyView.Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee +38 more
wiley +1 more source
PLoS ONE, 2017 Thyroid associated ophthalmopathy (TAO) is an autoimmune inflammatory disorder which disfigures appearance, threatens vision, and results in a pronounced loss of quality of life. The diversity and ethnic difference of the disease manifestations have made
Qian Li +7 more
doaj +1 more source
Epilepsy syndromes classification
Epilepsia Open, EarlyView.Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 more
wiley +1 more source
Scientific ReportsThis study investigated potential associations between ectropion and various chronic and systemic inflammatory diseases affecting the eyelids and ocular surface.
Ahmad Mansour +6 more
doaj +1 more source