Results 111 to 120 of about 133,189 (264)

Genetic disorders and congenital anomalies in Nigeria: a scoping review. [PDF]

J Community Genet
Babalola AD, Muniz NF, Schuler-Faccini L.   +2 more
europepmc   +1 more source

Gene burden meta‐analysis of 748 879 individuals identifies LGI1‐ADAM23 protein complex association with epilepsy

Epilepsia, EarlyView.
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal, Costin Leu, Christian M. Boßelmann, Alina Ivaniuk, Eduardo Pérez‐Palma, Dennis Lal   +5 more
wiley   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

A review of congenital anomalies of the kidney and urinary tract (CAKUT) in Africa. [PDF]

Ann Med Surg (Lond)
Mazaleni S, Ghazi T, Chuturgoon AA, Bhimma R.   +3 more
europepmc   +1 more source

Congenital Anomalies in E.N.T.

Indian Journal of Otolaryngology and Head and Neck Surgery, 2001
V, Sinha, S, Johri, A, George
openaire   +3 more sources

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Advancing Insights into Biomarkers in Congenital Anomalies of the Kidney and Urinary Tract: A Scoping Review. [PDF]

Cells
Rosanio FM, Borgia G, Ferone E, Braile A, Hosseininasab SF, Braile M.   +5 more
europepmc   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

A review and commentary on congenital anomalies of the craniocervical junction. [PDF]

Pediatr Radiol
McAllister AS, Sribnick EA.
europepmc   +1 more source

A first in disease trial of the safety, tolerability, and anti‐seizure effects of ES‐481 in drug‐resistant epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives ES‐481 is a novel potent and selective antagonist of TARP‐y8‐dependent AMPA receptors. We aimed to assess the potential efficacy, safety and tolerability, and pharmacokinetics of different doses of ES‐481 as an add‐on anti‐seizure medication (ASM) in adults with drug‐resistant epilepsy (DRE). Methods This was a Phase 2A double‐blind,
Emma C. Foster, Lyn Millist, Jack Germaine, Stephanie Chamorro, Caitlin Roberts, John‐Paul Nicolo, Sean Hosking, Piero Perucca, Saul Mullen, Heather Robinson, Rebecca Wharrie, Brittany Walsh, David Reutens, Kimberley Irwin, Hao Zeng, Robert Niecestro, Terence J. O'Brien   +16 more
wiley   +1 more source