Results 161 to 170 of about 347,356 (359)

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real‐world study

Epilepsia, Volume 66, Issue 7, Page 2253-2267, July 2025.
Abstract Objective This real‐world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment ...
Emanuele Cerulli Irelli, Adolfo Mazzeo, Roberto H. Caraballo, Marco Perulli, Patrick B. Moloney, Javier Peña‐Ceballos, Marica Rubino, Katarzyna M. Mieszczanek, Andrea Santangelo, Laura Licchetta, Valentina De Giorgis, Gabriela Reyes Valenzuela, Susanna Casellato, Elisabetta Cesaroni, Francesca F. Operto, Jana Domínguez‐Carral, Alia Ramírez‐Camacho, Alessandro Ferretti, Giuseppe Santangelo, Angel Aledo‐Serrano, Andrea Rüegger, Maria M. Mancardi, Giulia Prato, Antonella Riva, Luca Bergonzini, Duccio M. Cordelli, Paolo Bonanni, Francesca Bisulli, Giancarlo Di Gennaro, Sara Matricardi, Pasquale Striano, Norman Delanty, Carla Marini, Domenica Battaglia, Carlo Di Bonaventura, Georgia Ramantani, Elena Gardella, GENE‐CBD Study Group, Alessandro Orsini, Antonietta Coppola, Alessandra Morano, Nicola Simeone, Claudia Cuccurullo, Massimo Scacciati, Alice Bonuccelli, Maddalena Bianchetti, Alberto Verrotti, Marta Piccioli, Massimiliano Celario, Elena Tartara, Giulia Balletto, Chiara Bagliani, Beatriz Gonzalez Giraldez, Pasquale Parisi, Carmen Salluce, Emanuele Bartolini, Maria Del Carmen Fons‐Estupiña, Federico Ramos, Alberto Danieli, Alessandra Rossi, Elisabetta Pantaloni, Ana Laura Fernandez‐Perrone, Giorgio Magli, Ilaria Onida, Giulia Bruschi, Lorenzo Muccioli, Tomasz S. Mieszczanek, Trine Hammer, Francesca Furia   +68 more
wiley   +1 more source

Primary Hepatic Neuroendocrine Tumor in a Patient With Tuberous Sclerosis

Annals of Internal Medicine: Clinical Cases
Tuberous sclerosis is a rare multisystemic disease with common benign manifestations. However, recent research suggests a rare association with malignant tumors.
Lindsey Farmer, Julie Rowe
doaj   +1 more source

Genetic aspects of tuberous sclerosis in the west of Scotland. [PDF]

, 1989
Julian R. Sampson, S J Scahill, J Stephenson, Lori Mann, J. M. Connor   +4 more
openalex   +1 more source

Deep brain stimulation of the centromedian nucleus for drug‐resistant epilepsy in children: Quality‐of‐life and functional outcomes from the CHILD‐DBS registry

Epilepsia, Volume 66, Issue 7, Page 2225-2238, July 2025.
Abstract Objective Deep brain stimulation of the centromedian nucleus of the thalamus (CM‐DBS) is an investigational, off‐label treatment for drug‐resistant epilepsy (DRE) in children. Although emerging evidence supports its safety and efficacy for select indications, the effect of CM‐DBS on quality of life and functional outcomes such as school ...
Karim Mithani, Farbod Niazi, Hrishikesh Suresh, Yousof Alrumayyan, Eriberto R. Rayco, Ayako Ochi, Hiroshi Otsubo, Elizabeth Kerr, Sara Breitbart, Andrea LeBlanc‐Millar, Nisha Gadgil, Jeffrey S. Raskin, Alexander G. Weil, Aristides Hadjinicolaou, Christian Iorio‐Morin, Shelly Weiss, Puneet Jain, Lauren Sham, Elizabeth Donner, Alfonso Fasano, Carolina Gorodetsky, George M. Ibrahim   +21 more
wiley   +1 more source

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Epilepsia, EarlyView.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell   +10 more
wiley   +1 more source

Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate

Stem Cell Research & Therapy
Background Tuberous sclerosis complex is a genetic disorder caused by mutations in the TSC1 or TSC2 genes, affecting multiple systems. These genes produce proteins that regulate mTORC1 activity, essential for cell function and metabolism.
Shuang Wang, Ruishuang Ma, Chong Gao, Yu-Nong Tian, Rong-Gui Hu, Han Zhang, Lan Li, Yue Li   +7 more
doaj   +1 more source

Patients with tuberous sclerosis have fibroblasts with normal limits for growth characteristics and sensitivities to DNA alkylating agents [PDF]

, 1984
Kousaku Ohno, Kenzo Takeshita
openalex   +1 more source

Patterns of phosphorylated tau accumulation in a spectrum of acquired and developmental brain lesions associated with refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Phosphorylated tau (pTau) has been reported in surgical resections in refractory epilepsy. It is unclear whether this is activity‐driven physiological pTau or signifies the advent of neurodegenerative cascades, relevant to memory decline.
Alicja Mrzyglod, Anya Mebrouk, Joanna Bartkiewicz, Hanaa El Hachami, Maritchka Ryniejska, Jane de Tisi, Roland Coras, Ingmar Blumcke, Fenglai Xiao, Anna Miserocchi, Andrew McEvoy, Matthias Koepp, Joan Liu, Maria Thom   +13 more
wiley   +1 more source

Tuberous Sclerosis and the Autistic Syndrome [PDF]

, 1987
B. E. Oliver
openalex   +1 more source

Impact of epilepsy surgery on the adaptive behavior of children with drug‐resistant epilepsy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to assess the impact of surgical treatment on the adaptive abilities of children with drug‐resistant epilepsy (DRE) and moderate or severe developmental delays, and to identify factors that could potentially predict adaptive outcomes following epilepsy surgery.
Ana Valeria Duarte Oliveira, Hélio Rubens Machado, Úrsula Thomé, Marcelo Volpon Santos, Geisa de Angelis, João Pereira Leite, Antonio Carlos dos Santos, Lauro Wichert‐Ana, Ana Paula Hamad, Américo Ceiki Sakamoto, Tonicarlo Rodrigues Velasco   +10 more
wiley   +1 more source