Results 11 to 20 of about 9,841 (192)

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

Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants

Arquivos de Neuro-Psiquiatria, 2023
Background Infantile epileptic spasms syndrome (IESS) is a rare but severe condition affecting children early and is usually secondary to an identifiable brain disorder.
Letícia Pereira de Brito Sampaio, Adélia Maria de Miranda Henriques-Souza, Mariana Ribeiro Marcondes da Silveira, Lisiane Seguti, Mara Lúcia Schmitz Ferreira Santos, Maria Augusta Montenegro, Sérgio Antoniuk, Maria Luíza Giraldes de Manreza   +7 more
doaj   +1 more source

Teleneurology based management of infantile spasms during COVID-19 pandemic: A consensus report by the South Asia Allied West syndrome research group

Epilepsy & Behavior Reports, 2021
With telehealth services rescuing patients with chronic neurological disorders during the COVID-19 pandemic, there is a need for simplified teleneurology protocols for neurological disorders in children.
Priyanka Madaan, Jitendra Kumar Sahu, Jithangi Wanigasinghe, Kanij Fatema, Kyaw Linn, Mimi Lhamu Mynak, Nicolás Garófalo Gómez, Pauline Samia, Prakash Poudel, Prem Chand, Raili Riikonen   +10 more
doaj   +1 more source

EPILEPTIC SPASMS

Русский журнал детской неврологии, 2015
Epileptic spasms are epileptic seizures with sudden flexion/extension or of the mixed flexion and extension type, mainly involving the proximal and truncal muscles, that are normally longer than myoclonic seizures but shorter than tonic seizures, and ...
K. Yu. Mukhin, M. B. Mironov
doaj   +1 more source

Case Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED

Frontiers in Neurology, 2021
Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene.
Go Kawano, Takaoki Yokochi, Ryuta Nishikomori, Yoriko Watanabe, Keizo Ohbu, Yukitoshi Takahashi, Haruo Shintaku, Toyojiro Matsuishi, Toyojiro Matsuishi, Toyojiro Matsuishi   +9 more
doaj   +1 more source

A pulse rapamycin therapy for infantile spasms and associated cognitive decline

Neurobiology of Disease, 2011
Infantile spasms are seizures manifesting within a spectrum of epileptic encephalopathies of infancy that often lead to cognitive impairment. Their current therapies, including adrenocorticotropic hormone (ACTH), high dose steroids, or vigabatrin, are ...
Emmanuel Raffo, Antonietta Coppola, Tomonori Ono, Stephen W. Briggs, Aristea S. Galanopoulou   +4 more
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

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

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