Results 121 to 130 of about 15,063 (315)

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies [PDF]

, 2016
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their ...
Allen, Amy J. LaCroix, Amy L. Schneider, Andrew S. Allen, Annapurna Poduri, Anthony G. Marson, Auvin, Bagnall, Berg, Candace T. Myers, Carvill, Carvill, Carvill, Colton, Damaj, Daniel H. Lowenstein, David Coman, David B. Goldstein, de Ligt, Deepak Gill, Dennis Dlugos, Dimassi, Elliott Sherr, Erin L. Heinzen, Evan E. Eichler, Gemma L. Carvill, Georgina Hollingsworth, Hamdan, Heather C. Mefford, Hino-Fukuyo, Hugo Sampaio, Ingrid E. Scheffer, Jacinta M. McMahon, Jeremy Freeman, Jozef Gecz, Julia E. Saykally, Kim, Kong, Kong, Lynette G. Sadleir, Marina Nikanorova, Mark Corbett, Mark I. Rees, Matthew Zemel, McTague, Mefford, Michael P. Epstein, Michael R. Johnson, Nakamura, Norman Delanty, Papandreou, Patrick Carney, Patrick Cossette, Petrovski, Porreca, Reutens, Rikke S. Møller, Ruben Kuzniecky, Ruth Ottman, Samocha, Samuel F. Berkovic, Seo-Kyung Chung, Shoubridge, Slavé Petrovski, Smith-Packard, Sophie Calvert, Stephen Petrou, Tally Lerman-Sagie, Tanaka, Terence J. O’Brien, Tracy Glauser, William O. Pickrell, Xu   +72 more
core   +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

The significance of focal pattern in hypsarrhythmia

Brain Disorders
Introduction: Infantile Epileptic Spasms Syndrome (IESS) presents a therapeutic challenge and is frequently associated with developmental delay. It is characterized by seizures and hypsarrhythmia on the EEG and has multiple etiologies that influence ...
Anna Wiedemann, Birgit Stark, Gudrun Gröppel   +2 more
doaj   +1 more source

Frontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future

Epilepsia Open, EarlyView.
Abstract Electroencephalography (EEG) has evolved into an indispensable tool in pediatric epilepsy, fundamentally transforming the diagnosis, classification, and management of this condition. This review chronicles the historical journey of EEG from its groundbreaking inception to its current pivotal role in delineating distinct pediatric epilepsy ...
Hiroki Nariai
wiley   +1 more source

Epileptic drop attacks: More than just atonic seizures

Epilepsia Open, EarlyView.
Abstract “Drop attacks” are not officially defined by the International League Against Epilepsy. Seizures are characterized by a sudden loss of control over the trunk and posture, leading to falls and injuries, and resolving within a few seconds. Accurately diagnosing the type of seizure is usually difficult due to limitations in clinical documentation
Tomonori Ono, Kazuaki Sato, Ryoko Honda, Hiroshi Otsubo   +3 more
wiley   +1 more source

Incidence and phenotypes of childhood-onset genetic epilepsies:a prospective population-based national cohort [PDF]

, 2019
Epilepsy is common in early childhood. In this age group it is associated with high rates of therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number of genes, with wide ranging functions, are implicated in its aetiology,
Abdelnour, Ailsa McLellan, Alan Webb, Alice Jollands, Anagnostou, Anderson, Andreas Brunklaus, Angela Vincent, Appenzeller, Arsov, Barker, Baxter, Bayat, Bearden, Berg, Berg, Berg, Berkovic, Bethan Lang, Biervert, Boerma, Brunklaus, Brunklaus, Calum A Morrison, Capovilla, Caraballo, Ceulemans, Chiron, Christine Findlay, Coman, Coppola, Daniela T Pilz, de Lange, Devinsky, Devinsky, Devinsky, Devinsky, Di Giorgis, Ebrahimi-Fakhari, Elma Stephen, Eltze, Escayg, Fiest, French, Fukuoka, Gaily, Guerrini, Harkin, Hauser, Helbig, Heyne, Higurashi, Howell, Huang, Hully, Ishaq Abu-Arafeh, Jamie Andrew, Jamie Cruden, Jane MacDonnell, Jay Shetty, Jean McKnight, Johannesen, Joseph D Symonds, Kass, Kato, Kirsty Stewart, Krabbenborg, Kwan, Larsen, Lek, Lemke, Lesley Nairn, Liam Dorris, Lim, Lindy, Lotte, Louise A Diver, Margaret Wilson, Martin Kirkpatrick, Mary Callaghan, Mary O‘Regan, Meghan M Slean, Millichap, Milligan, Mullen, Mullen, Myers, Myers, Nellist, Ngugi, Olson, Palmer, Peng, Philip Brink, Pisano, Pong, Rosemary Grattan, Sameer M Zuberi, Sarah Gardiner, Sawyer, Scheffer, Shelagh Joss, Singh, Stewart MacLeod, Striano, Trump, Weckhuysen, Wilson, Wirrell, Wolff, Wu, Wynn, Zeng   +112 more
core   +4 more sources

BRAIN GROWTH, MENTAL AND COGNITIVE DEVELOPMENTCAN BE INFLUENCED BY SEVERE EPILEPTIC ACTIVITYDURING EARLY INFANCY

Zdravniški Vestnik, 2008
Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj  

Aicardi syndrome – case report and literature review

Annales Academiae Medicae Silesiensis
Aicardi syndrome (AS) is a rare congenital disorder with neurodevelopmental symptoms that in the significant majority of cases occurs in females. It is typically characterized by a classic triad of symptoms: epileptic spasms, agenesis of the corpus ...
Patrycja Ochman-Pasierbek, Przemysław Olczyk, Justyna Paprocka, Magdalena Machnikowska-Sokołowska, Adrianna Doman   +4 more
doaj   +1 more source

Transcranial Direct Current Stimulation for Patients With Pharmacoresistant Epileptic Spasms: A Pilot Study

Frontiers in Neurology, 2019
Background: Epileptic spasms (ES) is a severe seizure type and lack of adequate methods for controlling of clinical attacks. Previous studies have indicated that cathodal transcranial direct current stimulation (tDCS) reduces seizure frequency for ...
Dongju Yang, Dongju Yang, Qiaoyi Du, Qiaoyi Du, Zhaoyang Huang, Zhaoyang Huang, Liping Li, Liping Li, Zhang Zhang, Zhang Zhang, Liping Zhang, Xin Zhao, Xin Zhao, Xuan Zhao, Ting Li, Yicong Lin, Yicong Lin, Yuping Wang, Yuping Wang, Yuping Wang, Yuping Wang   +20 more
doaj   +1 more source

Epileptic Spasms-West syndrome secondary to Dravet syndrome due to SCN gene mutation from India

, 2021
Vykuntaraju K. Gowda, Hemadri Vegda, Raghavendraswami Amoghimath, Manojna Battina, Sanjay K. Shivappa, Naveen Benakappa   +5 more
openalex   +2 more sources