Thus, state-specific analysis is essential for determining the extent to which EEG abnormalities are associated with sleep disorders in patients with AS. The PSG can provide an objective indicator of sleep state, quantity, quality and potential diagnostic criteria, and the use of PSG can achieve ...
Luke Rosen is a former television actor, theater actor, and writer turned full-time patient advocate. His daughter Susannah was diagnosed with a mutation of herKIF1Agene when she was 2 years old. Her rare neurogenerative disease has caused her to have a seizure disorder, a movement disorder,...
RADNOR, Pa.--(BUSINESS WIRE)--Marinus Pharmaceuticals, Inc., Inc.(Nasdaq: MRNS), a pharmaceutical company dedicated to the development of innovative therapeutics to treat rare seizure disorders, announced today that the U.S. Food a...
Copy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in life in the general population remains poorly described. Assessing four modes of CNV action, we performed genome-wid
Precision medicine initiatives are being launched worldwide, each with the capacity to sequence many thousands to millions of human genomes. At the strategic planning level, all are debating the extent to which these resources will be directed towards ra
- 《Seizure》 被引量: 28发表: 2015年 Childhood Epilepsy The pharmacotherapy of epilepsy in children must account for a number of specific issues. The nature of epileptic disorders found in children differs from that in adults. For example, epilepsies of childhood are more likely to be develop....
In 16 adults and 14 children, it remained unclear whether the epilepsy was focal or generalized. Generalized simple motor seizures were found in 66 adults and 52 children, representing the most frequent seizure type. Etiology could be determined in 40 adults and 45 children. Hippocampal sclerosis ...
Novel study design to assess the efficacy and tolerability of antiseizure medications for focal-onset seizures in infants and young children: a consensus document from the regulatory task force and the pediatric commission of the International League against Epilepsy (ILAE), in collaboration with the ...
The one-step test can be used to screen for the four syndromes simultaneously by looking at the number of chemical modifications or marks called methylation added to affected genes, which are not present at such high or low levels in children without these disorders. ...
The NIMH controls sample consists of adults who completed an online short self-report assessment to exclude severe psychiatric disorders, but were not specifically screened for autism. The UW controls were assessed for dyslexia by comprehensive testing, and screened for absence of ASD with a ...