Results 11 to 20 of about 7,962 (207)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Investigations in West Syndrome: Which, When and Why

Pediatric Neurology Briefs, 2015
Investigators from the National Infantile Spasms Consortium (NISC) in the USA studied the etiology of new-onset infantile spasms (IS) in 251 infants (mean age at onset, 7.1, range, 0.1-22.7 months).
Richard E Appleton
doaj   +1 more source

Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry

Frontiers in Neurology, 2021
Background: Epilepsy is the most common neurological manifestation in individuals with tuberous sclerosis complex (TSC). However, real-world evidence on diagnosis and treatment patterns is limited.
Rima Nabbout, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Ruben Marques, Finbar O'Callaghan, Jiong Qin, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, J. Chris Kingswood   +30 more
doaj   +1 more source

Safety and Efficacy of Vigabatrin for the Treatment of Infantile Spasms

Journal of Central Nervous System Disease, 2011
In 2009, vigabatrin became the first FDA approved medication for the treatment of infantile spasms in the United States. There are few well-designed prospective studies comparing the drug to placebo or other modalities used in the treatment of infantile ...
Michele A. Faulkner, Justin A. Tolman
doaj   +1 more source

Genetic Classification of Infantile Spasms

Pediatric Neurology Briefs, 2012
Researchers from University of Washington, Seattle, WA, and Washington University, St Louis, MO propose a genetic and biologic classification of infantile spasms. Infantile spasms are of 2 main groups: those with known or unknown predisposing genotypes.
J Gordon Millichap
doaj   +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   +1 more source

A team science approach to discover novel targets for infantile spasms (IS)

Epilepsia Open, 2021
Infantile spasms (IS) is a devastating epilepsy syndrome that typically begins in the first year of life. Symptoms consist of stereotypical spasms, developmental delay, and electroencephalogram (EEG) that may demonstrate Hypsarhythmia.
The CURE Infantile Spasms Consortium, CURE Staff, Laura Lubbers, Sloka S. Iyengar   +2 more
doaj   +1 more source

The early electroclinical manifestations of infantile spasms: A video EEG study

Annals of Indian Academy of Neurology, 2016
Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG) changes are sparse in the literature.
Mary Iype, Puthuvathra Abdul Mohammed Kunju, Geetha Saradakutty, Devi Mohan, Shahanaz Ahamed Mohammed Khan   +4 more
doaj   +1 more source

Limited efficacy of zonisamide in the treatment of refractory infantile spasms

Epilepsia Open, 2020
A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. Using a large single‐center cohort of children with infantile spasms, we set out to evaluate the efficacy and safety of ...
Shaun A. Hussain, Mario Navarro, Jaeden Heesch, Matthew Ji, Brenda Asilnejad, Haley Peters, Rajsekar R. Rajaraman, Raman Sankar   +7 more
doaj   +1 more source

Clinical profile and treatment of infantile spasms using vigabatrin and ACTH - a developing country perspective

BMC Pediatrics, 2010
Background Infantile spasms represent a serious epileptic syndrome that occurs in the early infantile age. ACTH and Vigabatrin are actively investigated drugs in its treatment.
Ishaque Sidra, Gulab Shamshad, Ibrahim Shahnaz, Saleem Taimur   +3 more
doaj   +1 more source