Results 61 to 70 of about 17,755 (294)
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 +1 more source
Epileptic spasms - 175 years on: Trying to teach an old dog new tricks [PDF]
PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review.
Ibekwe, RC +2 more
core +1 more source
Optimal approach to standardized documentation in epilepsy clinics: A scoping review
Abstract Clear documentation and transfer of information between health care providers is key to ensuring the delivery of high‐quality patient care. Our aim was to determine how to optimize and standardize physician documentation in outpatient epilepsy clinics as well as to highlight challenges and barriers to their implementation.
Shahab Marzoughi +8 more
wiley +1 more source
Treatment of Symptomatic Infantile Spasms
Investigators at Tokyo Women's Medical University studied the clinical, radiological, and EEG characteristics of 69 patients with infantile spasms (IS) followed for 3-74 months (mean 18 months) after initial cessation of epileptic spasms (ES).
J Gordon Millichap
doaj +1 more source
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion [PDF]
Background: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases.
An, Yu +10 more
core +1 more source
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy +8 more
wiley +1 more source
Study of the Effects of Mogadon in Treatment of Infantile Spasms
Among epileptic syndromes the infantile spasms ( west syndrome ) is the most malignant one and leads to irreparable brain damage, which is related directly to duration of spasms.
Mohammad Mahdi Taghdiri
doaj
Behavioral and EEG asymmetry and asynchrony of 8,680 infantile spasms were analysed in a review of 75 consecutive video-EEG recordings performed at UCLA Medical Center, Los Angeles from 1982 to 1992.
J Gordon Millichap
doaj +1 more source
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz +73 more
wiley +1 more source
Abstract High‐frequency oscillations (HFOs) were discovered more than 20 years ago, and since then they have been studied intensively in the context of epilepsy. HFOs encompass a broad spectrum of oscillations, typically ranging from 80 Hz to several kHz, that include both normal and pathological oscillations, documented in people with epilepsy and ...
Christos Panagiotis Lisgaras +6 more
wiley +1 more source

