Results 161 to 170 of about 293,955 (289)

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review. [PDF]

Glob Med Genet
Ciantar N, Said E.
europepmc   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Sex differences in diffusion-weighted imaging outcomes in autosomal dominant Alzheimer's disease. [PDF]

Brain Commun
Giudicessi A, Koops E, Baena A, Alvarez S, Vidal M, Martinez L, Bonillas Félix NA, Gonzalez I, Medrano R, Tristão-Pereira C, Malotaux V, He B, Vila-Castelar C, Jacobs HIL, Aguillon D, Cronin-Golomb A, Quiroz YT.   +16 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease

Saudi Journal of Kidney Diseases and Transplantation, 1999
Schwenger Vedat, Zeier Martin
doaj  

Cortical asymmetry in autosomal dominant Alzheimer's disease progression. [PDF]

Brain Commun
Pérez-Millan A, Falgàs N, Bosch B, Borrego-Écija S, Antonell A, Fernández-Villullas G, Esteller-Gauxax D, Tort-Merino A, Bargalló N, Balasa M, Lladó A, Aguillon D, Chrem P, Day GS, Devenney E, Huey ED, Ikeuchi T, Jucker M, Kasuga K, Vöglein J, Roh JH, Vitali P, Sosa Ortiz AL, Llibre-Guerra JJ, Gordon BA, McDade E, Bateman RJ, Sánchez-Valle R, Dominantly Inherited Alzheimer Network (DIAN) .   +28 more
europepmc   +1 more source

De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source