Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Feedback on "The Impact of Workflow Modifications in an Electronic Medical Record on Tertiary Service Referrals for Patients with Visual Impairment in New York City" [Letter]. [PDF]
Wijaya A, Soultoni Akbar P, Wijayanti I.
europepmc +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
Development and testing of an electronic frailty index using Canadian electronic medical record data in primary care. [PDF]
Thandi M +4 more
europepmc +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Impact of an automated, electronic medical record-integrated inferior vena cava filter tracking system on retrieval rates. [PDF]
Chan KL +8 more
europepmc +1 more source
Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH
ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li +10 more
wiley +1 more source
Assessment of implementation challenges of electronic medical record in Yekatit 12 hospital medical college. [PDF]
Mamae AA, Mamo E.
europepmc +1 more source
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang +8 more
wiley +1 more source

