Results 91 to 100 of about 133,799 (192)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Pathophysiology of Infantile Spasms

Pediatric Neurology Briefs, 1993
An age-specific endogenous-convulsant hypothesis implicating corticotropin-releasing hormone (CRH), an excitant neuropeptide suppressed by ACTH/steroids, is proposed for the pathophysiology of massive infantile spasms in a report from the University of ...
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

Rare dysfunctional SCN2A variants are associated with malformation of cortical development

Epilepsia, Volume 66, Issue 3, Page 914-928, March 2025.
Abstract Objective SCN2A encodes the voltage‐gated sodium (Na+) channel α subunit NaV1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.
Jérôme Clatot, Christopher H. Thompson, Susan Sotardi, Jinan Jiang, Marina Trivisano, Simona Balestrini, D. Isum Ward, Natalie Ginn, Brunetta Guaragni, Laura Malerba, Angeliki Vakrinou, Mia Sherer, Ingo Helbig, Ala Somarowthu, Sanjay M. Sisodiya, Roy Ben‐Shalom, Renzo Guerrini, Nicola Specchio, Alfred L. George Jr, Ethan M. Goldberg   +19 more
wiley   +1 more source

Prognosis of Infantile Spasms

Pediatric Neurology Briefs, 1993
The developmental, neurologic, and seizure outcome and prognostic factors of 57 cases of infantile spasms were evaluated in relation to etiology (cryptogenic 17 cases, symptomatic 40 cases) at the Hospital for Sick Children, Toronto, Canada.
J Gordon Millichap
doaj   +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

Incidence of childhood and youth epilepsy: A population‐based prospective cohort study utilizing current International League Against Epilepsy classifications for seizures, syndromes, and etiologies

Epilepsia, Volume 66, Issue 3, Page 776-789, March 2025.
Abstract Objective This study was undertaken to describe incidence and distribution of seizures, etiologies, and epilepsy syndromes in the general child and youth population, using the current International League Against Epilepsy (ILAE) classifications. Methods The study platform is the Norwegian Mother, Father, and Child Cohort Study (MoBa). Epilepsy
Truls Vikin, Morten I. Lossius, Ragnhild E. Brandlistuen, Richard F. Chin, Kari M. Aaberg   +4 more
wiley   +1 more source

Methysergide and Infantile Spasms

Pediatric Neurology Briefs, 1989
A trial of antiadrenergic and antiseretonergic drugs in the treatment of 24 newly diagnosed and previously untreated infantile spasm patients is reported from the Epilepsy Research Center, Section of Neurophysiology, Department of Neurology, Baylor ...
J Gordon Millichap
doaj   +1 more source

Efficacy and tolerability of the ketogenic diet versus high‐dose adrenocorticotropic hormone for infantile spasms: A single‐center parallel‐cohort randomized controlled trial

Epilepsia, 2019
To compare the efficacy and safety of the ketogenic diet (KD) with standard adrenocorticotropic hormone (ACTH) treatment in infants with West syndrome.
A. Dressler, F. Benninger, Petra Trimmel‐Schwahofer, G. Gröppel, B. Porsche, K. Abraham, A. Mühlebner, Sharon Samueli, C. Male, M. Feucht   +9 more
semanticscholar   +1 more source

Long‐term efficacy and safety of cannabidiol in patients with treatment‐resistant focal epilepsies treated in the Expanded Access Program

Epilepsia, EarlyView.
Open‐label CBD treatment was associated with sustained seizure reduction through 144 weeks, with a consistent safety profile in patients with treatment‐resistant focal epilepsies, regardless of epilepsy type. Abstract Objective Cannabidiol (CBD) treatment was associated with long‐term seizure reduction in patients with various treatment‐resistant ...
Anup D. Patel, Jerzy P. Szaflarski, Paul D. Lyons, Michael Boffa, Teresa Greco, Timothy B. Saurer, Karthik Rajasekaran, Kelly C. Simontacchi, Elizabeth A. Thiele   +8 more
wiley   +1 more source