Results 81 to 90 of about 132,025 (234)

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

Epilepsia Open, EarlyView.
Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Giulia Barcia, Nicole Chemaly, Stéphanie Gobin‐Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante‐Bordeneuve, Marie Hully, Remi Barrois, Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun, Monika Eisermann, Cécile Fourrage, Sylvain Hanein, Marlène Rio, Nathalie Boddaert, Isabelle Desguerre, Anna Kaminska, Julie Steffann, Rima Nabbout   +21 more
wiley   +1 more source

Vigabatrin therapy implicates neocortical high frequency oscillations in an animal model of infantile spasms

Neurobiology of Disease, 2015
Abnormal high frequency oscillations (HFOs) in EEG recordings are thought to be reflections of mechanisms responsible for focal seizure generation in the temporal lobe and neocortex. HFOs have also been recorded in patients and animal models of infantile
James D. Frost, Jr., John T. Le, Chong L. Lee, Carlos Ballester-Rosado, Richard A. Hrachovy, John W. Swann   +5 more
doaj  

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

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Confirmatory study on the retention rate of ketogenic diet therapy and related factors in children with drug‐resistant epilepsy: A single‐center cohort study

Epilepsia Open, EarlyView.
Abstract Objective To confirm the retention rate of ketogenic diet therapy (KDT) in children with drug‐resistant epilepsy and identify its related factors through a cohort analysis. Methods This was a single‐center cohort study. Baseline data were collected, and regular follow‐up was conducted after KDT treatment. The retention rate of KDT at different
Jie Zhang, Qiang Gu, Yuan Wu, Han Xie, Cuijie Wei, Yao Zhang, Taoyun Ji, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Yuwu Jiang, Ye Wu   +11 more
wiley   +1 more source

Is highly purified cannabidiol a treatment opportunity for drug‐resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?

Epilepsia Open, EarlyView.
Abstract Objective This study aimed to evaluate the efficacy and safety of adjunctive, highly purified Cannabidiol (Epidiolex®) in individuals with drug‐resistant epilepsy (DRE) due to genetically determined typical Rett Syndrome (RTT) and CDKL5 Deficiency Disorder (CDD). Methods We recruited subjects with genetically confirmed typical RTT and CDD with
Aglaia Vignoli, Giulia Prato, Enrico Alfei, Irene Bagnasco, Alberto Danieli, Massimiliano Celario, Jacopo Favaro, Sara Matricardi, Francesca Felicia Operto, Alessandro Orsini, Davide Paolo Bernasconi, Nicola Pietrafusa, Emilia Ricci, Luca Manfredini, Giulia Balletto, Paolo Bonanni, Maria Paola Canevini, Valentina De Giorgis, Lino Nobili, Stefano Sartori, Miriam Nella Savini, Ilaria Viganò, Nicola Specchio   +22 more
wiley   +1 more source

Seizure Outcome in Infantile Spasms

Pediatric Neurology Briefs, 2011
Researchers at Great Ormond Street Hospital, London, and Lingfield Centre for Epilepsy, Surrey, UK, studied retrospectively the seizure outcome of 75 children treated over an 8-year period for infantile spasms (IS) with prednisolone or vigabatrin.
J Gordon Millichap
doaj   +1 more source

The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS)

Epilepsia, 2019
To determine the underlying etiologies in a contemporary cohort of infants with infantile spasms and to examine response to treatment.
J. Osborne, S. Edwards, F. Dietrich Alber, E. Hancock, A. Johnson, C. Kennedy, M. Likeman, A. Lux, M. Mackay, A. Mallick, R. Newton, M. Nolan, R. Pressler, D. Rating, B. Schmitt, C. Verity, F. O'callaghan   +16 more
semanticscholar   +1 more source

Prominent Chiari Network as a Cause of Cyanosis in Infants: A Case Report and Implications for Pediatric Cardiology Practice

Journal of Clinical Ultrasound, EarlyView.
A prominent Chiari network can cause cyanosis in infants by inducing a positional right‐to‐left atrial shunt. Accurate diagnosis enabled conservative management, delaying surgery until optimal conditions. This case emphasizes the importance of echocardiographic evaluation in differentiating cyanosis mechanisms to guide appropriate treatment in ...
Carmen Rodríguez‐Barrios, Irene Gutierrez‐Rosa, Moises Rodriguez‐Gonzalez   +2 more
wiley   +1 more source

Effectiveness of corticosteroids versus adrenocorticotropic hormone for infantile spasms: a systematic review and meta‐analysis

Annals of Clinical and Translational Neurology, 2019
To compare the therapeutic effectiveness of oral corticosteroids with that of adrenocorticotrophic hormone for infantile spasms.
Yin-Hsi Chang, Chiehfeng Chen, Shu‐Huey Chen, Yu-Chun Shen, Yung-Ting Kuo   +4 more
semanticscholar   +1 more source