[HTML][HTML] Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing
C Michetti, A Falace, F Benfenati, A Fassio - Neurobiology of Disease, 2022 - Elsevier
Synaptopathies are a class of neurodevelopmental disorders caused by modification in
genes coding for synaptic proteins. These proteins oversee the process of …
genes coding for synaptic proteins. These proteins oversee the process of …
Potassium channels and epilepsy
K Gao, Z Lin, S Wen, Y Jiang - Acta Neurologica Scandinavica, 2022 - Wiley Online Library
With the development and application of next‐generation sequencing technology, the
aetiological diagnosis of genetic epilepsy is rapidly becoming easier and less expensive …
aetiological diagnosis of genetic epilepsy is rapidly becoming easier and less expensive …
Cryo-EM structure of the human Kv3. 1 channel reveals gating control by the cytoplasmic T1 domain
G Chi, Q Liang, A Sridhar, JB Cowgill, K Sader… - Nature …, 2022 - nature.com
Kv3 channels have distinctive gating kinetics tailored for rapid repolarization in fast-spiking
neurons. Malfunction of this process due to genetic variants in the KCNC1 gene causes …
neurons. Malfunction of this process due to genetic variants in the KCNC1 gene causes …
Single-neuron models linking electrophysiology, morphology, and transcriptomics across cortical cell types
A Nandi, T Chartrand, W Van Geit, A Buchin, Z Yao… - Cell reports, 2022 - cell.com
Which cell types constitute brain circuits is a fundamental question, but establishing the
correspondence across cellular data modalities is challenging. Bio-realistic models allow …
correspondence across cellular data modalities is challenging. Bio-realistic models allow …
Timing is everything: structural insights into the disease-linked Kv3 channels controlling fast action-potential firing in the brain
MJ Gunthorpe - Nature Communications, 2022 - nature.com
Kv3 channels enable neurons to fire at very high frequencies (> 100 Hz) which is
fundamental to brain development and our ability to make sense of the world at large. Cryo …
fundamental to brain development and our ability to make sense of the world at large. Cryo …
Apo and ligand-bound high resolution Cryo-EM structures of the human Kv3. 1 channel reveal a novel binding site for positive modulators
M Botte, S Huber, D Bucher, JK Klint, D Rodríguez… - PNAS …, 2022 - academic.oup.com
Kv3 ion-channels constitute a class of functionally distinct voltage-gated ion channels
characterized by their ability to fire at a high frequency. Several disease relevant mutants …
characterized by their ability to fire at a high frequency. Several disease relevant mutants …
Genetic epilepsy syndromes
KA Myers - CONTINUUM: Lifelong Learning in Neurology, 2022 - journals.lww.com
PURPOSE OF REVIEW This article reviews the clinical features, typical EEG findings,
treatment, prognosis, and underlying molecular etiologies of the more common genetic …
treatment, prognosis, and underlying molecular etiologies of the more common genetic …
NEU1—A Unique Therapeutic Target for Alzheimer's Disease
A Khan, CM Sergi - Frontiers in Pharmacology, 2022 - frontiersin.org
Neuraminidase 1 (NEU1) is considered to be the most abundant and ubiquitous mammalian
enzyme, with a broad tissue distribution. It plays a crucial role in a variety of cellular …
enzyme, with a broad tissue distribution. It plays a crucial role in a variety of cellular …
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
N Schwarz, S Seiffert, M Pendziwiat, AV Rademacher… - Neurology, 2022 - AAN Enterprises
Background and Objectives KCNC2 encodes Kv3. 2, a member of the Shaw-related (Kv3)
voltage-gated potassium channel subfamily, which is important for sustained high-frequency …
voltage-gated potassium channel subfamily, which is important for sustained high-frequency …
Correlation of electrophysiological and gene transcriptional dysfunctions in single cortical parvalbumin neurons after noise trauma
W Wang, D Deng, K Jenkins, AK Zinsmaier, Q Zhou… - Neuroscience, 2022 - Elsevier
Abstract Parvalbumin-expressing (PV+) interneurons in the sensory cortex form powerful
inhibitory synapses on the perisomatic compartments and axon initial segments of excitatory …
inhibitory synapses on the perisomatic compartments and axon initial segments of excitatory …