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
Hazelnuts from a peat deposit at Evijärvi, western Finland [PDF]
Bulletin of the Geological Society of Finland, 1991 B. Eriksson, M. Aalto, T. Kankainen
doaj +1 more source
Young asteroidal fluid activity revealed by absolute age from apatite in carbonaceous chondrite. [PDF]
Nat Commun, 2016 Zhang AC +7 more
europepmc +1 more source
Investigations of Martian history [PDF]
Geologic and stratigraphic analyses of Martian channels were accomplished using Mariner frames of high resolution. Crater counts were made to determine which forms had the least relative age.
Hartmann, W. K.
core +1 more source
Detailed Geological Studies and Absolute Model Ages of the Apollo 15 Landing Site
, 2020 Wajiha Iqbal +2 more
openalex +1 more source
The Absolute Age and Origin of the Giant Gypsum Geode of Pulpí (Almería, SE Spain)
, 2022 Fernando Gázquez +5 more
openalex +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
Loss of the antioxidant enzyme CuZnSOD (Sod1) mimics an age-related increase in absolute mitochondrial DNA copy number in the skeletal muscle [PDF]
, 2016 Dustin R. Masser +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
Age and petrology of the Kaapinsalmi sanukitoid intrusion in Suomussalmi, eastern Finland [PDF]
Bulletin of the Geological Society of Finland, 2007 E. Heilimo, P. Mikkola, J. Halla
doaj +1 more source