Epilepsy in Wolf-Hirschhorn Syndrome: Clinical Insights from a Pediatric Cohort and a Review of the Literature. [PDF]
J Clin MedBlanco-Lago R +5 more
europepmc +1 more source
Brain Atrophy Associated With Risk Variant rs10191329 Extends Beyond Multiple Sclerosis
Annals of Neurology, EarlyView.The risk allele rs10191329*A is associated with disease severity and brain atrophy in people with multiple sclerosis (MS). We investigated the association of rs10191329 with age‐related brain atrophy in a population‐based cohort using 10,308 magnetic resonance imaging (MRI) scans of 4,815 participants aged ≥ 45 years without MS in cross‐sectional and ...
Cato E. A. Corsten +10 more
wiley +1 more source
Super-Fast, Super-Early: High-Frequency Oscillations May Be a Prelude to Alzheimer's Dementia in Down Syndrome. [PDF]
Epilepsy CurrSilva-Pérez M, Chin J.
europepmc +1 more source
Probabilistic Lesion Mapping to Optimize Thalamotomy Targets for Focal Hand Dystonia
Annals of Neurology, EarlyView.Objective Focal hand dystonia (FHD) severely impairs task‐specific motor control, yet the optimal surgical target for stereotactic intervention remains uncertain. This study aimed to identify the precise thalamic lesion site associated with symptomatic improvement and to clarify its network connectivity. Methods We retrospectively analyzed 164 patients
Masahiko Nishitani +12 more
wiley +1 more source
Pregnancy and epileptic seizures in the emergency department setting: A retrospective analysis. [PDF]
PLoS OneSimsek Y, Gur A.
europepmc +1 more source
Annals of Neurology, EarlyView.Objective Quaking‐induced conversion (QuIC) tests, which detect prion‐seeding activity in cerebrospinal fluid (CSF), have markedly advanced the antemortem diagnosis of prion diseases such as Creutzfeldt‐Jakob disease (CJD). These tests provide high diagnostic accuracy and enable timely differentiation from other rapidly progressive neurodegenerative ...
Jennifer Myskiw +13 more
wiley +1 more source
Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures
Annals of Neurology, EarlyView.Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick +9 more
wiley +1 more source
Behavioral Phenotyping of WAG/Rij Rat Model of Absence Epilepsy: The Link to Anxiety and Sex Factors. [PDF]
BiomedicinesSitnikova E, Pupikina M.
europepmc +1 more source
Annals of Neurology, EarlyView.Objective The optimal treatment for distal medium vessel occlusion (DMVO) stroke remains uncertain, and evidence comparing endovascular therapy (EVT) with medical management (MM) is limited. We aimed to develop and validate a predictive modeling tool to assess individual treatment benefit in DMVO stroke using explainable counterfactual treatment ...
Mohamed F. Doheim +14 more
wiley +1 more source
Na<sub>v</sub>igating Phenotypic Characterization and CRISPRa Restoration for <i>SCN2A</i> Haploinsufficiency Disorders. [PDF]
Epilepsy CurrWong JC.
europepmc +1 more source