Results 251 to 260 of about 21,153 (309)

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

Local patient-centered headache advocacy with regional and global impact: lessons from the Japanese Patient Advocacy Coalition (JPAC). [PDF]

J Headache Pain
Danno D, Yamanaka E, Tabata K, Kikui S, Chu MK, Begasse de Dhaem O, Hirata K, Sakai F, Takeshima T.   +8 more
europepmc   +1 more source

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

A participatory systems approach for visualizing and testing implementation strategies and mechanisms: evidence adoption in community coalitions. [PDF]

Implement Sci Commun
Moore TR, Chusan YAC, Pachucki M, Kim B.
europepmc   +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, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Relationship Between Cross-Generational Coalitions and Depression Among Chinese College Students: The Chain Mediating Roles of Self-Differentiation and Interpersonal Adaptation. [PDF]

Psychol Res Behav Manag
Peng C, Shen Y, Zhang Z, Chen H, Ye S, Li Y, Zhang Y, Ren Q.   +7 more
europepmc   +1 more source

Approaches for community intervention and research priority setting to reduce health inequalities: a scoping review. [PDF]

J Public Health (Oxf)
Shuttleworth CE, Birch JM, Bell L, Ogunyemi M, Ley CD, Lully H, Wilcox J, Grant R, Whitehouse J, Dracup N, Staniszewska S, Chen YF.   +11 more
europepmc   +1 more source

PROTOCOL: Artificial Intelligence and Other Digital Tools Used by, and for Community Health Workers (CHWs) in Low and Middle-Income Countries (LMICs) to Improve Outcomes and Increase Effectiveness: An Evidence and Gap Map. [PDF]

Campbell Syst Rev
Philbrick WC, Milnor J, Mekuria FT, Mbachu P, Mechael P, Ssennoga B, Aranda Z.   +6 more
europepmc   +1 more source

The Malaysian Election Corpus (MECo): Federal and State-Level Election Results from 1955 to 2025. [PDF]

Sci Data
Thevananthan T.
europepmc   +1 more source

A community-engaged model for promoting youth behavioral health equity: voices from Washington State's Community Prevention and Wellness Initiative. [PDF]

Front Public Health
Terral HF, Newburg J, Karimova K, Cooper BR, Shrestha G.   +4 more
europepmc   +1 more source