Results 151 to 160 of about 40,471 (297)

Computational protein stability analysis of SCN1A missense variants reveals domain‐dependent stability patterns

Epilepsia Open, EarlyView.
Abstract Objective To determine whether computational protein‐stability predictions discriminate pathogenic from benign SCN1A missense variants, and to characterize the structural distribution of predicted destabilization among pathogenic variants. Methods On an AlphaFold3‐predicted Nav1.1 structure, FoldX, and Rosetta Cartesian ΔΔG were computed for a
Youngkyu Shim, Eungu Kang, Naeun Kwak, Suhyun Kim   +3 more
wiley   +1 more source

Spinal interneuron population dynamics underlying flexible pattern generation

Nature Communications
The mammalian spinal locomotor network is composed of diverse populations of interneurons that collectively orchestrate and execute a range of locomotor behaviors.
Lahiru N. Wimalasena, Chethan Pandarinath, Nicholas AuYong   +2 more
doaj   +1 more source

Effect of sleep deprivation on firing activity of hippocampal parvalbumin-expressing interneurons associated with trace eyeblink conditioning

陆军军医大学学报
Objective‍　‍To investigate the effects of sleep deprivation on the firing activity of hippocampal parvalbumin-expressing interneuron (PV-IN) of mice during trace eyeblink conditioning (tEBC) training and during recovery sleep.
ZHAN Yue, ZHAN Yue, LI Rongrong, ZHANG Jie   +3 more
doaj   +1 more source

Response to anti‐seizure medications in children carrying novel or previously reported HCN1 gene variants

Epilepsia Open, EarlyView.
Abstract Objective Variants in the HCN1 gene cause a syndrome of childhood epilepsy and developmental disability with a broad phenotypic range. Many affected children manifest with early infantile epileptic encephalopathy (EIEE) and highly drug‐resistant epilepsy.
Marium N. Khan, Nicholas P. Poolos
wiley   +1 more source

Auditory gamma‐band synchronization and attentional performance in juvenile myoclonic epilepsy

Epilepsia Open, EarlyView.
Abstract Objective Cognitive difficulties in juvenile myoclonic epilepsy (JME) are part of the clinical phenotype alongside epileptic seizures; however, the underlying neurophysiological mechanisms remain unclear. Auditory steady‐state responses (ASSRs) to repetitive 40‐ and 80‐Hz stimuli are widely used measures of gamma‐band oscillations (GBOs ...
Ryo Mitoma, Shunsuke Tamura, Yoji Hirano, Takako Mitsudo, Yubin Sung, Takahiko Mukaino, Takahiro Yamaguchi, Kou Matsumoto, Toshiaki Onitsuka, Shogo Hirano, Tomohiro Nakao, Noriko Isobe, Hiroshi Shigeto   +12 more
wiley   +1 more source

The regulation of stem cell fate and its application in neural regeneration

Interdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He, Xingyu Chen, Minghong He, Zhe Li   +3 more
wiley   +1 more source

Reversing brain aging: Targeting energy metabolism in endogenous neural stem cells

Interdisciplinary Medicine, EarlyView.
Mechanism of endogenous neural stem cells (eNSCs) energy metabolism disorder leading to brain aging and targeted eNSCs intervention strategies (By biorender). The disorder of energy metabolism of eNSCs can lead to their resting and aging, and eventually lead to brain aging.
Chong Chen, Jiayi Wang, Jimin Yu, Yiran Zhou, Lihai Liu, Jing Liu, Liang Wang   +6 more
wiley   +1 more source

Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law, Shanie Desrosiers, Sinthiya Sivanesan, Helga Tonkov, Frédéric Charron, Frédéric Bretzner, Myriam Srour, Dorothy Barthélemy   +7 more
wiley   +1 more source

A population approach to cortical GABAergic interneuron function

Inhibitory interneuron diversity is a central feature of cortical circuits. The IN-CODE consortium seeks to combine large-scale recordings of interneuron types with machine-learning tools to identify the role of their physiological features, connectivity
Sauer, Jonas-Frederic, Bödecker, Joschka, Diester, Ilka, Monyer, Hannah, Leibold, Christian, Schmoranzer, Jan, Schreiber, Susanne, Sprekeler, Henning, Vida, Imre, Elgueta, Claudio, Haberl, Matthias, Binder, Harald, Larkum, Matthew, Bartos, Marlene, Veit, Julia, Geiger, Jörg R.P., Vlachos, Andreas, Viana da Silva, Silvia, Madry, Christian, Kulik, Akos, Letzkus, Johannes J., Grosser, Sabine, Poulet, James F.A.   +22 more
core   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source