Results 81 to 90 of about 32,760 (257)

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

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

Genetic testing practices across European epilepsy centers: An ERN EpiCARE survey

Epilepsia Open, EarlyView.
Abstract Objective Genetic testing plays an increasing role in the diagnostic pathway for rare and complex epilepsies. However, significant heterogeneity persists in access, implementation, and interpretation across Europe. This study aimed to assess genetic testing practices, accessibility, and challenges across expert epilepsy centers within the ...
Sébile Tchaicha, Johanna Van Hulle, Eva Brilstra, Andreas Brunklaus, Gaetano Cantalupo, Martin Geroldinger, Amy McTague, Reetta Kälviäinen, Eulalia Turón‐Viñas, Alexis Arzimanoglou, Rikke S. Møller, Rima Nabbout   +11 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

Epilepsia Open, EarlyView.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker, Margot Ernst, Matias Wagner, Silvia B. Bonelli, Karin Trimmel, Judith Jud, Elisabeth Graf, Christian Dorfer, Karl Rössler, Susanne Aull‐Watschinger, Ekaterina Pataraia, Fritz Zimprich, Martin Krenn   +12 more
wiley   +1 more source

Polygenic Risk Score in Clinical Practice: A Review

Indian Journal of Clinical Cardiology
Cardiovascular diseases continue to be the leading cause of mortality and morbidity in the world. The prevalence has been changing with time in the developing and developed world.
Karthik Tummala
doaj   +1 more source

Neurolathyrism in Sub‐Saharan Africa—Assessing the Neurotoxic Risks of Lathyrus sativus Amid Drought and Food Security Challenges

Food Safety and Health, EarlyView.
Representation of grass pea consumption in drought‐stricken sub‐Saharan Africa sustains nutrition, but excess β‐ODAP exposure due to multiple reasons triggers neurolathyrism, a progressive neurotoxic disorder. ABSTRACT Neurolathyrism is a progressive motor neuron disease due to the consumption of Lathyrus sativus (grass pea) over long periods.
Biruk Demisse Ayalew, Muhammad Umar, Pakeezah Tabasum, Maria Qadri, Talha Farooq, Eskeatnaf Yosef Getachew, Zemichael Getu Alemayehu, Eden Haile Hagos, Hailemariam Shimelis Gebeyehu, Hanna Tsehay Abebe, Nuradin Abdi Ali, David Chinaecherem Innocent, Temesgen Mamo Sharew   +12 more
wiley   +1 more source

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

Advanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

Stacked neural network for predicting polygenic risk score

Scientific Reports
In recent years, the utility of polygenic risk scores (PRS) in forecasting disease susceptibility from genome-wide association studies (GWAS) results has been widely recognised.
Sun bin Kim, Joon Ho Kang, MyeongJae Cheon, Dong Jun Kim, Byung-Chul Lee   +4 more
doaj   +1 more source

Association between genetic risk of melatonin secretion and attention deficit hyperactivity disorder

Psychiatry Research Communications
Sleep problems are common in individuals with ADHD; however, the exact underlying mechanism is unknown. I Data from the Lundbeck Foundation Initiative for Integrative Psychiatric Research (N = 27,076), the Taiwan Biobank (N = 2373) and the Hamamatsu ...
Nagahide Takahashi, Tomoko Nishimura, Akemi Okumura, Taeko Harada, Toshiki Iwabuchi, Md Shafiur Rahman, Pi-Hua Liu, Gwo-Tsann Chuang, Yi-Cheng Chang, Yoko Nomura, Kenji J. Tsuchiya   +10 more
doaj   +1 more source