Results 11 to 20 of about 133,799 (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

Brain Magnetic Resonance Imaging Findings in Infantile Spasms

Neurology International, 2022
Background: Infantile spasms are an age-specific epileptic disorder. They occur in infancy and early childhood. They can be caused by multiple etiologies. Structural abnormalities represent an important cause of infantile spasms. Brain magnetic resonance
Osama Y. Muthaffar
doaj   +1 more source

Targeted gut microbiota manipulation attenuates seizures in a model of infantile spasms syndrome

JCI Insight, 2022
Infantile spasms syndrome (IS) is a devastating early-onset epileptic encephalopathy associated with poor neurodevelopmental outcomes. When first-line treatment options, including adrenocorticotropic hormone and vigabatrin, are ineffective, the ketogenic
C. Mu, Naghmeh Nikpoor, T. Tompkins, Anamika Choudhary, Melinda Wang, W. Marks, J. Rho, Morris H. Scantlebury, J. Shearer   +8 more
semanticscholar   +1 more source

EEG biomarkers for the diagnosis and treatment of infantile spasms

Frontiers in Neurology, 2022
Early diagnosis and treatment are critical for young children with infantile spasms (IS), as this maximizes the possibility of the best possible child-specific outcome.
Blanca Romero Milà, Kavyakantha Remakanthakurup Sindhu, J. Mytinger, Daniel W. Shrey, Beth A. Lopour   +4 more
semanticscholar   +1 more source

Inequities in Therapy for Infantile Spasms: A Call to Action

Annals of Neurology, 2022
The aim of this study was to determine whether selection of treatment for children with infantile spasms (IS) varies by race/ethnicity.
Fiona M. Baumer, J. Mytinger, Kerri L. Neville, Christina Briscoe Abath, Camilo A. Gutierrez, Adam L. Numis, C. Harini, Zihuai He, Shaun A. Hussain, A. Berg, C. Chu, W. Gaillard, T. Loddenkemper, Archana Pasupuleti, Debopam Samanata, Rani K. Singh, N. Singhal, C. Wusthoff, E. Wirrell, Elissa G. Yozawitz, K. Knupp, R. Shellhaas, Z. Grinspan   +22 more
semanticscholar   +1 more source

Response to sequential treatment with prednisolone and vigabatrin in infantile spasms

Journal of Paediatrics and Child Health, 2022
To report response to first treatment in infants with infantile spasms (IS), including incremental benefit of prednisolone 60 mg/day and vigabatrin following prednisolone 40 mg/day failure in infants commenced on the United Kingdom Infantile Spasms Study
Winston Dzau, Sally Cheng, Penny Snell, M. Fahey, I. Scheffer, A. Harvey, K. Howell   +6 more
semanticscholar   +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

Association of Time to Clinical Remission With Sustained Resolution in Children With New-Onset Infantile Spasms

Neurology, 2022
Background and Objectives Standard therapies (adrenocorticotropic hormone [ACTH], oral steroids, or vigabatrin) fail to control infantile spasms in almost half of children. Early identification of nonresponders could enable rapid initiation of sequential
Christopher J. Yuskaitis, J. Mytinger, Fiona M. Baumer, Bo Zhang, Shanshan Liu, Debopam Samanta, Shaun A. Hussain, Elissa G. Yozawitz, C. Keator, Charuta N. Joshi, Rani K. Singh, S. Bhatia, S. Bhalla, R. Shellhaas, C. Harini   +14 more
semanticscholar   +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

Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network

Annals of Neurology, 2021
Approximately 50% of patients with tuberous sclerosis complex develop infantile spasms, a sudden onset epilepsy syndrome associated with poor neurological outcomes.
A. Cohen, B. Mulder, A. Prohl, L. Soussand, Peter E. Davis, Mallory R Kroeck, Peter McManus, A. Gholipour, B. Scherrer, E. Bebin, Joyce Y. Wu, H. Northrup, D. Krueger, M. Sahin, S. Warfield, M. Fox, J. Peters   +16 more
semanticscholar   +1 more source