Results 111 to 120 of about 79,932 (302)

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

Epilepsia, EarlyView.
Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS. Methods We identified participants with highest (n = 59) versus lowest (n 
Sophie von Brauchitsch, Nils Hartung, Robin A. Karge, Bobby Koeleman, Samuel F. Berkovic, Danielle M. Andrade, Francesca Bisulli, Antonio Gambardella, Renzo Guerrini, Ingrid E. Scheffer, Ingo Helbig, Wolfram S. Kunz, Holger Lerche, Hiltrud Muhle, Christian Boßelmann, Savvas S. Papacostas, Mark I. Rees, Sanjay M. Sisodiya, Pasquale Striano, Lynnette Sadleir, Yvonne Weber, Dennis Lal, Costin Leu, Philipp S. Reif, Stefan Wolking, Felix Rosenow, Karl Martin Klein, for the Epi25 Collaborative   +27 more
wiley   +1 more source

Monogenic functions on surfaces.

Journal für die reine und angewandte Mathematik (Crelles Journal), 1985
In this paper we introduce two sequences \((\Gamma_ k)_{k\to {\mathbb{N}}}\) and (\({\tilde \Gamma}{}_ k)_{k\in {\mathbb{N}}}\) of generalized Cauchy- Riemann operators on an m-dimensional surface \(\Sigma\) of \({\mathbb{R}}^{m+1}\). The first operators \(\Gamma_ 0\) and \({\tilde \Gamma}{}_ 0\) may be considered as generalizations to surfaces of the ...
openaire   +2 more sources

Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia

, 2019
Monogenic diabetes and hyperinsulinism are genetically heterogeneous disorders. The determination of the genetic etiology defines the diagnostic subtype, predicts prognosis, and importantly can guide clinical management.
Jayne A. L. Houghton, Houghton, Jane A. L.   +1 more
core   +1 more source

How should etiology change the classification of the epilepsies? Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract The classification of the epilepsies has traditionally relied on clinical and electroencephalographic features. However, advancements in molecular genetics, neuroimaging, and our understanding of epilepsy pathophysiology necessitate a shift toward an etiology‐based approach.
Nicola Specchio, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Ingrid E. Scheffer   +15 more
wiley   +1 more source

MODY: Strategies for a unique form of diabetes

Journal of Education and Health Promotion
Maturity-onset diabetes of the young (MODY) is a monogenic, autosomal dominant form of diabetes that typically presents before the age of 25. It is caused by mutations in single genes involved in insulin production and glucose regulation, leading to ...
Ram K. Garg
doaj   +1 more source

Monogenic causes of obesity

, 2019
In recent years the prevalence of obesity has significantly increased, pursued by multiplication of patients with type 2 diabetes, cardiological problems and premature death. Between the most dangerous forms of obesity belongs its monogenic type as it is
Toman, Izabela
core  

Special Bi-Axial Monogenic Functions

, 1994
In this paper we extend our recent work on axial monogenic functions in R(m+1) to functions which are monogenic in bi-axially symmetric domains of R(p+q).
Common, AK, Common, Alan K., Sommen, Franciscus, Sommen, F.   +3 more
core   +1 more source

Etiology‐specific spectrum of epilepsy syndromes (ESSES): Widening the concept of etiology‐specific epilepsies—Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract A new type of epilepsy syndrome, an etiology‐specific epilepsy syndrome, was defined in 2022 in recognition of major advances in identifying the many genetic and acquired etiologies underlying the epilepsies. An etiology‐specific epilepsy syndrome refers to where a known etiology is associated with a distinctive epilepsy presentation ...
Ingrid E. Scheffer, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Nicola Specchio   +15 more
wiley   +1 more source

On monogeneity of reciprocal polynomials

The Ramanujan Journal
To apper in The Ramanujan ...
Rupam Barman, Anuj Narode, Vinay Wagh
openaire   +2 more sources

Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model

Epilepsia, EarlyView.
Abstract Objective γ‐Aminobutyric acidergic (GABAergic) parvalbumin‐positive (PV+) interneurons are critical for maintaining cortical inhibitory tone, with their dysfunction predictably leading to epilepsy. Rapid PV+ interneuron firing is essential for their normal function and is maintained in part by potassium voltage‐gated channels.
Sheryl Anne D. Vermudez, Mustafa Q. Hameed, Yongho Choe, Gabrielle E. McGinty, Amanda M. Liebhardt, Rui Lin, Benjamin Hui, Yini Liang, David J. Arce, Henry H. C. Lee, Mustafa Sahin, Alexander Rotenberg   +11 more
wiley   +1 more source