Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges. [PDF]
Front Mol Neurosci, 2022 Bian WJ +7 more
europepmc +1 more source
FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
Felbamate as an oral add-on therapy in six dogs with presumptive idiopathic epilepsy and generalized seizures resistant to drug therapy. [PDF]
Open Vet J, 2022 Dewey CW, Rishniw M, Sakovitch K.
europepmc +1 more source
Psoas Syndrome Following a Generalized Seizure
Journal of Epilepsy ResearchPsoas syndrome is a rare form of muscle irritation that causes pain and weakness in the lower extremities. A 52-year-old male presented to the emergency department with complaints of having had a seizure and weakness in the left lower extremity. A computerized tomography scan of the abdomen and pelvis revealed reversible thickening of the left psoas ...
Na, Yoonjeong +7 more
openaire +2 more sources
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
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
Seizures in horses: diagnosis and classification
, 2015 Véronique A Lacombe Department of Physiological Sciences, Oklahoma State University Center for Veterinary Health Sciences, Stillwater, OK, USA Abstract: Seizures are a diverse and very common set of chronic neurologic disorders in humans and dogs
Lacombe VA
core
Annals of Clinical and Translational Neurology, EarlyView.Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
You Snooze You Seize: GABAergic Potentiation of Genetic Generalized Seizures During NREM. [PDF]
Epilepsy Curr, 2021 Kadam SD.
europepmc +1 more source