Results 201 to 210 of about 42,983 (297)

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

Epileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source

A Potential Link Between Outcome of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Syndrome in Children and Breastfeeding: A Retrospective Single-Center Cohort Snapshot. [PDF]

Children (Basel)
Rigante D, Candelli M.
europepmc   +1 more source

Seminars in epileptology: Holistic management of epilepsy in adults with intellectual development disorders

Epileptic Disorders, EarlyView.
Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca, Antonella Riva, Samuel López‐Maza, Malin Zaddach, Marie‐Claire Porter, Ingo Borggraefe, Lance Watkins, Andreas Schulze‐Bonhage, Rohit Shankar, Pasquale Striano, Lina Nashef   +10 more
wiley   +1 more source

A rare missense p.C125Y mutation in the TNFRSF1A gene identified in a Chinese family with tumor necrosis factor receptor-associated periodic fever syndrome. [PDF]

Front Genet
Qian M, Zhou J, Wu J, Zhang H, Yu S, Xu H, Yang Y, Zhou F, Yang Q, Shao L, Zhang W, Jiang N, Ruan Q.   +12 more
europepmc   +1 more source

The Challenge of Managing Children With Periodic Fever Syndromes in the Era of COVID-19. [PDF]

Front Pediatr, 2020
Consolini R, Costagliola G, Gattorno M.
europepmc   +1 more source

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

Epilepsia, EarlyView.
Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis, Juliette Copeland, Isabella Velez, Karen L. Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle deCampo, Holly Dubbs, Natalie Ginn, Alicia G. Harrison, Naomi Lewin, Laina Lusk, Eric D. Marsh, Shavonne L. Massey, Pamela Pojomovsky McDonnell, Jillian L. McKee, Xilma Ortiz‐Gonzalez, Anna J. Prentice, Katie Rose Sullivan, Sarah M. Ruggiero, Mark P. Fitzgerald, Ethan M. Goldberg, Ingo Helbig   +27 more
wiley   +1 more source

Soticlestat as an adjunctive therapy in children and young adults with Dravet syndrome

Epilepsia, EarlyView.
Overview of the phase 3 trial evaluating soticlestat as adjunctive therapy in children and young adults with Dravet syndrome. Abstract Objective This study evaluated the efficacy, safety, and tolerability of soticlestat as adjunctive therapy in children and young adults with Dravet syndrome (DS).
Joseph Sullivan, Kette Valente, Vicente Villanueva, Adam Strzelczyk, Rima Nabbout, Eiji Nakagawa, Yuehua Zhang, Marta Zolnowska, Yasir Khan, Cheng Dong, Samuel Hsiao, Sarah I. Sheikh, Philipp von Rosenstiel, Mahnaz Asgharnejad, Venkatesha Murthy   +14 more
wiley   +1 more source

Interictal and seizure‐onset scalp electroencephalographic patterns in malformations of cortical development

Epilepsia, EarlyView.
Abstract Objective Malformations of cortical development (MCDs) are a frequent cause of drug‐resistant epilepsy and a common indication for resective epilepsy surgery. As magnetic resonance imaging (MRI) lacks sensitivity for subtle MCDs, supplemental diagnostic tools are needed.
Lubna Shakhatreh, Liz Edenberg P. Quiles, Zhibin Chen, Ofer M. Gonen, Saba Mohidat, Lyn Millist, Callum Hollis, Andrea Sundram, Piero Perucca, Terence J. O'Brien, Patrick Kwan   +10 more
wiley   +1 more source

Periodic Disease: Periodic Fever [PDF]

BMJ, 1957
openaire   +1 more source

Recommendations for structural magnetic resonance imaging in infants with first afebrile seizure or new onset epilepsy: Evidence‐based recommendations from the ILAE Neuroimaging Task Force

Epilepsia, EarlyView.
Abstract Infants aged 1–24 months with new onset epilepsy frequently present with structural brain abnormalities, yet no updated evidence‐based magnetic resonance imaging (MRI) guidelines exist for this population. The International League Against Epilepsy (ILAE) Neuroimaging Task Force developed evidence‐based recommendations for structural brain MRI ...
Gavin P. Winston, Simone Salemme, Gaetano Cantalupo, Fernando Cendes, Felice D′Arco, Paolo Federico, William D. Gaillard, Eliane Kobayashi, Edward J. Novotny, Godwin Ogbole, Abdul Kareem Pullattayil, Domenico Tortora, Matthew T. Whitehead, Taoyun Yi, Francesco Brigo, Anna Elisabetta Vaudano   +15 more
wiley   +1 more source