Results 201 to 210 of about 72,602 (290)

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, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Leveraging Deep Learning for Time-Series Extrinsic Regression in Predicting the Photometric Metallicity of Fundamental-Mode RR Lyrae Stars. [PDF]

Sensors (Basel)
Monti L, Muraveva T, Clementini G, Garofalo A.   +3 more
europepmc   +1 more source

Period changes of eclipsing variable stars.

The Astronomical Journal, 1950
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, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Seasonal synchronization and unpredictability in epidemic models with waning immunity and healthcare thresholds. [PDF]

Sci Rep
Eclerová V, Sen D, Přibylová L.
europepmc   +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, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

General and Behavioral Health Screening Under EPSDT for Adolescents in New York Medicaid Managed Care.

JAMA Netw Open
Rosales R, Meyers DJ, McConnell KJ, Flores M, Feinberg E, Burke Bryant E, Galárraga O.   +6 more
europepmc   +1 more source

Evolution of competitive systems in nature. [PDF]

Sci Rep
Deng C, Sun X, Guan R, Chang L, Yu H, Lu W, Hou Y, Fu K.   +7 more
europepmc   +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, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India. [PDF]

Ann Indian Acad Neurol
Gowda VK, Srinivasan VM, Krishnanada V, Sathyakumar R, Mahadevan A.   +4 more
europepmc   +1 more source