Results 11 to 20 of about 132,025 (234)

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   +3 more sources

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   +4 more sources

ACTH in Infantile Spasms

Pediatric Neurology Briefs, 1990
The relationship between dose of ACTH and the initial effect and long-term prognosis was investigated in 41 children with infantile spasms at the Department of Pediatrics, Kyoto University, Kyoto, Japan.
J Gordon Millichap
doaj   +3 more sources

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Epilepsia Open, 2023
Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.
Balamurugan Nagarajan, V. Gowda, S. Yoganathan, I. Sharawat, K. Srivastava, N. Vora, Rahul Badheka, S. Danda, Umesh D. Kalane, A. Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, P. Panda, S. Rajadhyaksha, A. Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, R. Suthar, Maya Thomas, S. Vyas, N. Sankhyan, J. Sahu   +23 more
semanticscholar   +1 more source

Mechanisms of infantile epileptic spasms syndrome: What have we learned from animal models?

Epilepsia, 2023
The devastating developmental and epileptic encephalopathy of infantile epileptic spasms syndrome (IESS) has numerous causes, including, but not limited to, brain injury, metabolic, and genetic conditions.
Andy Cheuk-Him Ng, Anamika Choudhary, K. Barrett, C. Gavrilovici, Morris H. Scantlebury   +4 more
semanticscholar   +1 more source

De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association

Frontiers in Molecular Neuroscience, 2023
Objective This study aims to prove that the de novo variants in MAST4 gene are associated with neurodevelopmental disorders (NDD) with developmental delay (DD) and infantile spasm (IS) and to determine the genotype-phenotype correlations.
Xi Zhang, Neng Xiao, Yang Cao, Ying Peng, Aojie Lian, Yuanlu Chen, Pengchao Wang, Weiyue Gu, B. Xiao, Jing Yu, Hua Wang, Li Shu   +11 more
semanticscholar   +1 more source

Fifteen years of real‐world data on the use of vigabatrin in individuals with infantile epileptic spasms syndrome

Epilepsia, 2023
This study was undertaken to evaluate our treatment algorithm for infantile epileptic spasms syndrome (IESS) used between 2000 and 2018.
M. Kuchenbuch, Tommaso Lo Barco, N. Chemaly, C. Chiron, R. Nabbout   +4 more
semanticscholar   +1 more source

Etiologic Classification of 541 Infantile Spasms Cases: A Cohort Study

Frontiers in Pediatrics, 2022
Objective To explore the etiology of infantile spasms (IS) in a large Chinese cohort based on the United States National Infantile Spasms Consortium (NISC) classification.
P. Peng, M. Kessi, L. Mao, F. He, Ciliu Zhang, Chen Chen, N. Pang, F. Yin, Z. Pan, Jing Peng   +9 more
semanticscholar   +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

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