The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma +5 more
wiley +1 more source
Research methods in genetic counseling: Statistical approaches and resources. [PDF]
Helm BM, Wetherill L.
europepmc +1 more source
Factors associated with psychological distress during genetic counseling in high-risk women with breast cancer in Turkey [PDF]
Dilek Anuk +3 more
openalex +1 more source
The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley +1 more source
The impact of genetic counseling on parental risk perception and prevention strategy utilization for type 2 diabetes in at-risk children. [PDF]
Denton J, Nee M, McGwin G, Frickman A.
europepmc +1 more source
Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew +11 more
wiley +1 more source
Enhancing rigor and justice in genetic counseling research with reflexivity and positionality. [PDF]
Zayhowski K, Borle K, Channaoui N.
europepmc +1 more source
Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel +5 more
wiley +1 more source
Patient-reported outcomes for remote and in-person visits for genetic counseling in adult neurology. [PDF]
Paul RA +8 more
europepmc +1 more source
Genetic counseling in sudden arrhythmia death syndrome : the science and the art
Anthony Liu Pak-yin
openalex +1 more source

