Results 81 to 90 of about 8,633 (168)

Long‐term developmental outcome in infantile epileptic spasms syndrome after high‐dose prednisolone and vigabatrin treatment

Epilepsia Open, EarlyView.
Abstract Objective To evaluate long‐term developmental outcomes and identify independent predictors of favorable developmental outcomes at 3 years of age in children with infantile epileptic spasms syndrome (IESS) treated with a standardized stepwise vigabatrin and high‐dose prednisolone protocol.
Soyoung Jang, Hui Jin Shin, Se Hee Kim, Joon Soo Lee, Ara Ko, Hoon‐Chul Kang   +5 more
wiley   +1 more source

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

Clinical profile of vigabatrin as monotherapy for treatment of infantile spasms

Neuropsychiatric Disease and Treatment, 2010
Jason T Lerner1, Noriko Salamon2, Raman Sankar1,31Departments of Pediatrics, 2Radiological Sciences, 3Neurology, David Geffen School of Medicine, University of California Los Angeles and Mattel Children’s Hospital at UCLA, Los Angeles, CA ...
Jason T Lerner, Noriko Salamon, Raman Sankar   +2 more
doaj  

Efficacy analysis of oral dexamethasone in the treatment of infantile spasms and infantile spasms related Lennox-Gastaut syndrome. [PDF]

BMC Pediatr, 2023
Li J, Gao Y, Cao J, Cai F, Zhai X.
europepmc   +1 more source

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Epilepsia Open, EarlyView.
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley, Peter Widdess‐Walsh, Christine Linehan, Danielle M. Andrade, Norman Delanty, Patrick B. Moloney   +5 more
wiley   +1 more source

Adapting Action Recognition Neural Networks for Automated Infantile Spasm Detection

IEEE Transactions on Neural Systems and Rehabilitation Engineering
Infantile spasms are a severe epileptic syndrome characterized by short muscular contractions lasting from 0.5 to 2 seconds. They are often misdiagnosed due to their atypical presentation, and treatment is frequently delayed, leading to stagnation or ...
Samuel Diop, Nouha Essid, Francois Jouen, Jean Bergounioux, Imen Trabelsi   +4 more
doaj   +1 more source

Reversal of refractory epilepsy in an adult with GAMT deficiency: A case report and comparative literature review

Epilepsia Open, EarlyView.
Abstract Objective Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce. Methods We report a 52‐year‐old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory ...
Wei‐Hung Sung, Hsi Chen, Che‐Wei Hsu, Meng‐Han Tsai   +3 more
wiley   +1 more source

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source

The ACTH Quandary: Balancing Efficacy and Affordability for Infantile Spasms Treatment. [PDF]

Epilepsy Curr, 2023
Aungaroon G.
europepmc   +1 more source

Electronic Devices and Digital Therapeutics in Neuromuscular Diseases: Narrative Review on Current Applications in Patients' Management and Pharmacovigilance

Health Care Science, EarlyView.
Digital innovations are revolutionizing neuromuscular disease management by integrating wearable sensors, mobile applications, and telemedicine to enable continuous monitoring and personalized care. These technologies enhance diagnosis, treatment, and drug development fostering dynamic interaction between patients and clinicians paving the way toward ...
Ilaria Saltarella, Concetta Altamura, Paola Laghetti, Giuseppina Settanni, Nicola Savino, Angelo Galiano, Bodvaël Fraysse, Angelo Vacca, Jean‐François Desaphy   +8 more
wiley   +1 more source