Results 191 to 200 of about 2,747,199 (303)

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

Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders. [PDF]

iScience
Díaz-de Usera A, Rubio-Rodríguez LA, Muñoz-Barrera A, Lorenzo-Salazar JM, Guillen-Guio B, Jáspez D, Corrales A, Marcelino-Rodríguez I, Rodríguez-Pérez MDC, Cabrera-de León A, González-Montelongo R, Cruz-Guerrero R, Carracedo Á, Flores C.   +13 more
europepmc   +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

Whole exome sequencing and cluster analysis reveal that EPB41L4A mutation may trigger tooth agenesis. [PDF]

PLoS One
Li TQ, Zhang Q, Wang HJ, Ma ZF, Lu BY, Hou KG, Zhang XY.   +6 more
europepmc   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

GATES: A Lightweight Tool Automating Pathogenic Variant Discovery From Raw Whole-Exome Sequencing Data. [PDF]

Cancer Inform
Bambach NE, Ricarte-Filho JC, Reichenberger ER, Franco AT.   +3 more
europepmc   +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 case for caution in the application of whole-exome sequencing data for immune repertoire analysis. [PDF]

Brief Bioinform
Gong Z, Zhang W, Du B, Wu H, Li S.
europepmc   +1 more source

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals

Epilepsia Open, EarlyView.
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Akshat Katyayan, Christina Briscoe, Sonam Bhalla, Sonal Bhatia, Gozde Erdemir, Chellamani Harini, Senyene E. Hunter, John R. Mytinger, Duyu Nie, Archana Pasupuleti, Shital H. Patel, Debopam Samanta, Amanda Sandoval Karamian, Avantika Singh, Deepa Sirsi, Danielle S. Takacs, Shaun A. Hussain   +16 more
wiley   +1 more source

Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources. [PDF]

Int J Mol Sci
Verdura E, Montalbán-Casafont A, Solé X, Titos E, González-Roca E, Sánchez-Cárdenas C, López V, Palau N, Sánchez P, Mendoza-Cantero A, Rodriguez-Elena L, Jiménez D, Paredes-Fuentes AJ, Gort L, Rodríguez-Revenga L, Madrigal I, López-Púa Y, García-Villoria J, Badenas C, Villanueva-Cañas JL, Puig-Butillé JA.   +20 more
europepmc   +1 more source