Results 111 to 120 of about 132,025 (234)
Infantile Spasms Consensus Report
An Infantile Spasms Working Group (ISWG) of 14 pediatric neurologists with expertise in IS participated in a 2-day workshop to discuss 1) the current state of IS management, 2) the evidence for efficacy of ACTH and vigabatrin (VGB), approved in the US in
J Gordon Millichap
doaj +1 more source
Topiramate Monotherapy in Infantile Spasm
Infantile spasm is an age-related refractory epilepsy. Topiramate is a new anticonvulsant with multiple mechanisms of action, and it may be effective for treating pediatric epilepsies. To evaluate the efficacy and tolerability of first-line topiramate treatment for infantile spasm, 20 patients received topiramate monotherapy during this study.
Yong Hoon Jun+3 more
openaire +3 more sources
Abstract Objective Deep brain stimulation of the centromedian nucleus of the thalamus (CM‐DBS) is an investigational, off‐label treatment for drug‐resistant epilepsy (DRE) in children. Although emerging evidence supports its safety and efficacy for select indications, the effect of CM‐DBS on quality of life and functional outcomes such as school ...
Karim Mithani+21 more
wiley +1 more source
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry+10 more
wiley +1 more source
Abstract Objective KCNB1 encodes an α‐subunit of the delayed‐rectifier voltage‐dependent potassium channel Kv2.1. De novo pathogenic variants of KCNB1 have been linked to developmental and epileptic encephalopathies (DEEs), diagnosed in early childhood and sharing limited treatment options.
Lauralee Robichon+7 more
wiley +1 more source
Abstract Objective Following emerging evidence of autoimmune‐associated seizures in medication‐refractory epilepsy, we began offering a trial of immunotherapy to selected patients. Here, we review this approach's treatment response, predictive clinical features, and utility.
Elisabeth Doran+4 more
wiley +1 more source
Although infantile spasms can be caused by a variety of etiologies, the clinical features are stereotypical. The neuronal and vascular mechanisms that contribute to the emergence of infantile spasms are not well understood.
Emilie Bourel-Ponchel+4 more
doaj
Abstract Epilepsy is a chronic neurological condition marked by recurrent, uncontrolled seizures. Identifying comorbidities in epilepsy is critical for preventing mortality. Among these, the autonomic nervous system's role in epilepsy often manifests as cardiac disorders. Patients with epilepsy (PWE), particularly those with poorly controlled seizures,
Enes Akyuz+2 more
wiley +1 more source
Abstract Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor subunit genes are increasingly associated with epilepsy and neurodevelopmental disorders. Pathogenic variants in GABRA2, encoding the α‐2 subunit of GABAA receptors, have been recently reported.
Marie Adamo‐Croux+15 more
wiley +1 more source
Adapting Action Recognition Neural Networks for Automated Infantile Spasm Detection
Infantile spasms are a severe epileptic syndrome characterized by short muscular contractions lasting from 0.5 to 2 seconds. They are often misdiagnosed due to their atypical presentation, and treatment is frequently delayed, leading to stagnation or ...
Samuel Diop+4 more
doaj +1 more source