Results 111 to 120 of about 504,509 (226)
Scn1a‐mediated developmental regulation of prefrontal cortex plasticity and cognition
Epilepsia, EarlyView.Abstract Objective The voltage‐gated sodium channel Nav1.1, encoded by Scn1a, is essential for γ‐aminobutyric acid (GABA)ergic function, and its alteration is associated with neurological disorders such as Dravet syndrome and Alzheimer's disease. We previously demonstrated that local Nav1.1 dysfunction in the medial prefrontal cortex (mPFC) during ...
Maurizio S. Riga +5 more
wiley +1 more source
A Novel BHLHE41 Variant is Associated with Short Sleep and Resistance to Sleep Deprivation in Humans
, 2014 Study Objectives: Earlier work described a mutation in DEC2 also known as BHLHE41 (basic helix-loop-helix family member e41) as causal in a family of short sleepers, who needed just 6 h sleep per night.
Dinges, David F +19 more
core +1 more source
Epilepsia, EarlyView.Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy primarily caused by haploinsufficiency of the SCN1A gene, which encodes the alpha subunit of NaV1.1 voltage‐gated sodium channel. The disease manifests with febrile and spontaneous seizures, developmental delay, cognitive impairment, and increased risk of sudden ...
Martina Mainardi +4 more
wiley +1 more source
Absence seizures: Update on signaling mechanisms and networks
Epilepsia Open, EarlyView.Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley +1 more source
CHRONOTYPE AND DAILY FUNCTIONING OF PATIENTS WITH DIFFERENT MOTOR SUBTYPES OF PARKINSON DISEASE
Проблеми екології та медициниIntroduction. Sleep and circadian rhythm disturbances can occur at any stage of Parkinson disease (PD) and significantly affect quality of life. Chronotypes of patients with PD are associated with different phenotypes, in particular with the motor ...
A.D. Shkodina +3 more
doaj +1 more source
The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity
Epilepsia Open, EarlyView.Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia +4 more
wiley +1 more source
Measuring a sleep/stress switch point [PDF]
The Spielman 3P and Cano-Saper models of insomnia focus on the role of stress in the development of insomnia. To date, the impact of both naturalistic stressors and experimental stressors upon sleep have been inconsistent, due to limitations including ...
Elder, Greg
core
Epilepsia Open, EarlyView.Abstract Objective To evaluate the effectiveness and tolerability of cenobamate in patients with a significant reduction in concomitant antiseizure medication (ASM) in European cenobamate Early Access Programs (EAPs). Method Anonymized patient data from real‐world studies/registries associated with European cenobamate EAPs were pooled.
Vicente Villanueva +25 more
wiley +1 more source
Free Recall of Word Lists under Total Sleep Deprivation and after Recovery Sleep
, 2012 Study Objectives: One task that has been used to assess memory effects of prior total sleep deprivation (TSD) is the immediate free recall of word lists; however, results have been mixed.
Pompeia, Sabine [UNIFESP] +6 more
core +1 more source