Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.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
Clinical and Translational ScienceClindamycin is a common β‐lactam substitute for surgical prophylaxis. Whether peri‐operative disturbances in consciousness are disproportionately reported with clindamycin in global pharmacovigilance data remains unclear.
Kazuki Nishida +8 more
doaj +1 more source
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
Annals of Clinical and Translational Neurology, EarlyView.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
Disordered Consciousness or Disordered Wakefulness? The Importance of Prolonged Polysomnography for the Diagnosis, Drug Therapy, and Rehabilitation of an Unresponsive Patient With Brain Injury [PDF]
, 2017 Francesca Formica +7 more
openalex +1 more source
Towards a New Assessment Tool for Caregivers of Patients with Disorders of Consciousness: The Social and Family Evaluation Scale (SAFE) [PDF]
, 2022 Davide Sattin +3 more
openalex +1 more source
A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
طب اورژانس ایران, 2019 Introduction: Arcuate foramen anomaly is an anatomic variation in the first thoracic vertebrae that forms a space for passing of vertebral artery. Considering the role of this bony bridge in migraine development and its effect on prevalence of various ...
Behrouz Hashemi +3 more
doaj
Functional neuroanatomy of disorders of consciousness [PDF]
, 2013 Carol Di Perri +3 more
openalex +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
Annals of Clinical and Translational Neurology, EarlyView.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