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Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn Pais, Anne O'Donnell-Luria, Grace E VanNoy, Allan Bayat, Rikke S Møller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H Seaver, Jennifer A Sullivan, Vandana Shashi, Fowzan S Alkuraya, Alexis F Poss, J Edward Spence, Rhonda E Schnur, Ian C Forster, Chaseley E Mckenzie, Cas Simons, Min Wang, Penny Snell, Kavitha Kothur, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Daniel Henrion, Guy Lenaers, Estelle Colin, Nienke E Verbeek, Koen L Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A Reid, Katherine B Howell, Alban Ziegler, Christian Legros
Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy. To date, HCN2 variants have only been associated with mild epilepsy and recently, one monoallelic missense variant has been linked to developmental and epileptic encephalopathy. Here, we expand the phenotypic spectrum of HCN2- related disorders by describing twenty-one additional individuals from fifteen unrelated families carrying HCN2 variants...
March 22, 2024: medRxiv
#2
JOURNAL ARTICLE
Shir Quinn, Nan Zhang, Timothy A Fenton, Marina Brusel, Preethi Muruganandam, Yoav Peleg, Moshe Giladi, Yoni Haitin, Holger Lerche, Haim Bassan, Yuanyuan Liu, Roy Ben-Shalom, Moran Rubinstein
Mutations in the SCN8A gene, encoding the voltage-gated sodium channel NaV 1.6, are associated with a range of neurodevelopmental syndromes. The p.(Gly1625Arg) (G1625R) mutation was identified in a patient diagnosed with Developmental epileptic encephalopathy (DEE). While most of the characterized DEE-associated SCN8A mutations were shown to cause a gain-of-channel function, we show that the G1625R variant, positioned within the S4 segment of domain IV, results in complex effects. Voltage-clamp analyses of NaV 1...
March 20, 2024: Biochimica et Biophysica Acta. Molecular Basis of Disease
#3
REVIEW
Changning Xie, Miriam Kessi, Fei Yin, Jing Peng
Potassium voltage-gated channel subfamily a member 2 (Kv1.2, encoded by KCNA2) is highly expressed in the central and peripheral nervous systems. Based on the patch clamp studies, gain-of function (GOF), loss-of-function (LOF), and a mixed type (GOF/LOF) variants can cause different conditions/disorders. KCNA2-related neurological diseases include epilepsy, intellectual disability (ID), attention deficit/hyperactive disorder (ADHD), autism spectrum disorder (ASD), pain as well as autoimmune and movement disorders...
March 22, 2024: Molecular Neurobiology
#4
JOURNAL ARTICLE
Benjamin S M Barlow, André Longtin, Béla Joós
In a variety of neurons, action potentials (APs) initiate at the proximal axon, within a region called the axon initial segment (AIS), which has a high density of voltage-gated sodium channels (NaVs) on its membrane. In pyramidal neurons, the proximal AIS has been reported to exhibit a higher proportion of NaVs with gating properties that are "right-shifted" to more depolarized voltages, compared to the distal AIS. Further, recent experiments have revealed that as neurons develop, the spatial distribution of NaV subtypes along the AIS can change substantially, suggesting that neurons tune their excitability by modifying said distribution...
March 2024: PLoS Computational Biology
#5
JOURNAL ARTICLE
Xuhong Zhang, Xiaoyu Wang, Yanqing Li, Yingying Zhang, Hong Zhu, Chen Xie, Yudong Zhou, Ye Shen, Jianping Tong
Retinal vasoactive intestinal peptide amacrine cells (VIP-ACs) play an important role in various retinal light-mediated pathological processes related to different developmental ocular diseases and even mental disorders. It is important to characterize the developmental changes in VIP-ACs to further elucidate their mechanisms of circuit function. We bred VIP-Cre mice with Ai14 and Ai32 to specifically label retinal VIP-ACs. The VIP-AC soma and spine density generally increased, from postnatal day (P)0 to P35, reaching adult levels at P14 and P28, respectively...
February 5, 2024: Cellular and Molecular Neurobiology
#6
JOURNAL ARTICLE
Yinan DU, Zhiwei Li, Yukui Zhao, Jing Han, Weiping Hu, Zhiqiang Liu
5-Hydroxytryptamine (5-HT) type 3 receptor (5-HT3 R) is the only type of ligand-gated ion channel in the 5-HT receptor family. Through the high permeability of Na+ , K+ , and Ca2+ and activation of subsequent voltage-gated calcium channels (VGCCs), 5-HT3 R induces a rapid increase of neuronal excitability or the release of neurotransmitters from axon terminals in the central nervous system (CNS). 5-HT3 Rs are widely expressed in the medial prefrontal cortex (mPFC), amygdala (AMYG), hippocampus (HIP), periaqueductal gray (PAG), and other brain regions closely associated with anxiety reactions...
January 15, 2024: Journal of Zhejiang University. Science. B
#7
JOURNAL ARTICLE
Shaoming Fang, Zhechen Li, Shuo Pang, Yating Gan, Xiaoning Ding, Hui Peng
BACKGROUND: The epididymis is a highly regionalized tubular organ possesses vectorial functions of sperm concentration, maturation, transport, and storage. The epididymis-expressed genes and proteins are characterized by regional and developmental dependent pattern. However, a systematic and comprehensive insight into the postnatal development dependent changes in gene and protein expressions of porcine epididymis is still lacking. Here, the RNA and protein of epididymis of Duroc pigs at different postnatal development stages were extracted by using commercial RNeasy Midi kit and extraction buffer (7 M Urea, 2 M thiourea, 3% CHAPS, and 1 mM PMSF) combined with sonication, respectively, which were further subjected to transcriptomic and proteomic profiling...
December 4, 2023: BMC Genomics
#8
JOURNAL ARTICLE
Teresa Mínguez-Viñas, Varsha Prakash, Kaiqian Wang, Sarah H Lindström, Serena Pozzi, Stuart A Scott, Elizabeth Spiteri, David A Stevenson, Euan A Ashley, Cecilia Gunnarsson, Antonios Pantazis
Two KCNA2 variants (p.H310Y and p.H310R) were discovered in paediatric patients with epilepsy and developmental delay. KCNA2 encodes KV 1.2-channel subunits, which regulate neuronal excitability. Both gain and loss of KV 1.2 function cause epilepsy, precluding the prediction of variant effects; and while H310 is conserved throughout the KV -channel superfamily, it is largely understudied. We investigated both variants in heterologously expressed, human KV 1.2 channels by immunocytochemistry, electrophysiology and voltage-clamp fluorometry...
October 26, 2023: Journal of Physiology
#9
JOURNAL ARTICLE
Ana Vilan, Ana Grangeia, José Mendes Ribeiro, Maria Roberta Cilio, Linda S de Vries
BACKGROUND: Carbamazepine (CBZ) is effective in treating KCNQ2/3-related seizures, which may present with a distinctive amplitude-integrated electroencephalography (aEEG) pattern. OBJECTIVE: To assess how improved recognition of the distinctive aEEG ictal pattern associated with KCNQ2/3 variants has enabled early and effective targeted therapy with CBZ. METHODS: Retrospective descriptive study of five neonates with KCNQ2/3 pathogenic gene variants admitted at a level 3 neonatal intensive care unit (NICU) over an 8-year period...
February 2024: Neuropediatrics
#10
JOURNAL ARTICLE
Joshua R Enck, Eric C Olson
The apical dendrite of a cortical projection neuron (CPN) is generated from the leading process of the migrating neuron as the neuron completes migration. This transformation occurs in the cortical marginal zone (MZ), a layer that contains the Cajal-Retzius neurons and their axonal projections. Cajal-Retzius neurons (CRNs) are well known for their critical role in secreting Reelin, a glycoprotein that controls dendritogenesis and cell positioning in many regions of the developing brain. In this study, we examine the possibility that CRNs in the MZ may provide additional signals to arriving CPNs, that may promote the maturation of CPNs and thus shape the development of the cortex...
August 19, 2023: International Journal of Molecular Sciences
#11
JOURNAL ARTICLE
N Brooke, J Elliott, T Murphy, L Vera Stimpson
INTRODUCTION: The porcine model shows structural features comparable to that of humans and are routinely used within research, due to the ethical, legal, and practical use of post-mortem human samples. Methods for obtaining high quality and comparable reference data using standardised acquisition protocols are essential. METHODS: The decapitated heads of three adult white sows were subjected to radiographic imaging before and after cranial trauma (9 mm, Heckler and Koch MP5)...
August 16, 2023: Radiography
#12
JOURNAL ARTICLE
M Fu, X Ji, L Zhong, Q Wu, H Li, N Wang
OBJECTIVE: To investigate the variations in the expression of voltage-gated sodium (Nav ) channel subunits during development of rat cerebellar Purkinje neurons and their correlation with maturation of electrophysiological characteristics of the neurons. METHODS: We observed the changes in the expression levels of NaV 1.1, 1.2, 1.3 and 1.6 during the development of Purkinje neurons using immunohistochemistry in neonatal (5-7 days after birth), juvenile (12-14 days), adolescent (21-24 days), and adult (42-60 days) SD rats...
July 20, 2023: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
#13
JOURNAL ARTICLE
N Dirkx, Wout J Weuring, E De Vriendt, N Smal, J van de Vondervoort, Ruben van 't Slot, M Koetsier, N Zonnekein, Tim De Pooter, S Weckhuysen, B P C Koeleman
BACKGROUND: Prime editing (PE) is the most recent gene editing technology able to introduce targeted alterations to the genome, including single base pair changes, small insertions, and deletions. Several improvements to the PE machinery have been made in the past few years, and these have been tested in a range of model systems including immortalized cell lines, stem cells, and animal models. While double nicking RNA (dncRNA) PE systems PE3 and PE5 currently show the highest editing rates, they come with reduced accuracy as undesired indels or SNVs arise at edited loci...
July 13, 2023: BMC Biology
#14
JOURNAL ARTICLE
Andrew J Newell, Dereje Jima, Benjamin Reading, Heather B Patisaul
Toxicogenomics is a critical area of inquiry for hazard identification and to identify both mechanisms of action and potential markers of exposure to toxic compounds. However, data generated by these experiments are highly dimensional and present challenges to standard statistical approaches, requiring strict correction for multiple comparisons. This stringency often fails to detect meaningful changes to low expression genes and/or eliminate genes with small but consistent changes particularly in tissues where slight changes in expression can have important functional differences, such as brain...
July 3, 2023: Toxicological Sciences: An Official Journal of the Society of Toxicology
#15
JOURNAL ARTICLE
Sachiko Ohori, Akihiko Miyauchi, Hitoshi Osaka, Charles Marques Lourenco, Naohiro Arakaki, Toru Sengoku, Kazuhiro Ogata, Rachel Sayuri Honjo, Chong Ae Kim, Satomi Mitsuhashi, Martin C Frith, Rie Seyama, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Kuniaki Saito, Atsushi Fujita, Naomichi Matsumoto
We discovered biallelic intragenic structural variations (SVs) in FGF12 by applying long-read whole genome sequencing to an exome-negative patient with developmental and epileptic encephalopathy (DEE). We also found another DEE patient carrying a biallelic (homozygous) single-nucleotide variant (SNV) in FGF12 that was detected by exome sequencing. FGF12 heterozygous recurrent missense variants with gain-of-function or heterozygous entire duplication of FGF12 are known causes of epilepsy, but biallelic SNVs/SVs have never been described...
August 2023: Life Science Alliance
#16
REVIEW
W David Arnold, Brian C Clark
Sarcopenia, or age-related decline in muscle form and function, exerts high personal, societal, and economic burdens when untreated. Integrity and function of the neuromuscular junction (NMJ), as the nexus between the nervous and muscular systems, is critical for input and dependable neural control of muscle force generation. As such, the NMJ has long been a site of keen interest in the context of skeletal muscle function deficits during aging and in the context of sarcopenia. Historically, changes of NMJ morphology during aging have been investigated extensively but primarily in aged rodent models...
June 1, 2023: Ageing Research Reviews
#17
JOURNAL ARTICLE
Natascha S Vana, Karen M J van Loo, Ashley J van Waardenberg, Monika Tießen, Silvia Cases-Cunillera, Wenjing Sun, Anne Quatraccioni, Susanne Schoch, Dirk Dietrich
Oligodendrocyte precursor cells (OPCs) generate oligodendrocytes, a process that may be tuned by neuronal activity, possibly via synaptic connections to OPCs. However, a developmental role of synaptic signaling to OPCs has so far not been shown unequivocally. To address this question, we comparatively analyzed functional and molecular characteristics of highly proliferative and migratory OPCs in the embryonic brain. Embryonic OPCs in mice (E18.5) shared the expression of voltage-gated ion channels and their dendritic morphology with postnatal OPCs, but almost completely lacked functional synaptic currents...
September 2023: Glia
#18
REVIEW
Michael Levin
Each of us made the remarkable journey from mere matter to mind: starting life as a quiescent oocyte ("just chemistry and physics"), and slowly, gradually, becoming an adult human with complex metacognitive processes, hopes, and dreams. In addition, even though we feel ourselves to be a unified, single Self, distinct from the emergent dynamics of termite mounds and other swarms, the reality is that all intelligence is collective intelligence: each of us consists of a huge number of cells working together to generate a coherent cognitive being with goals, preferences, and memories that belong to the whole and not to its parts...
May 19, 2023: Animal Cognition
#19
JOURNAL ARTICLE
Magdalena Wender, Grit Bornschein, Simone Brachtendorf, Stefan Hallermann, Jens Eilers, Hartmut Schmidt
The composition of voltage-gated Ca2+ channel (Cav ) subtypes that gate action potential (AP)-evoked release changes during development of mammalian CNS synapses. Cav 2.2 and Cav 2.3 lose their function in gating evoked release during postnatal synapse maturation. In mature boutons, Cav 2.1 currents provide the almost exclusive trigger for evoked release and Cav 2.3 currents are required for the induction of presynaptic long term potentiation. However, the functional significance of Cav 2.2 remained elusive in mature boutons, although they remain present at active zones and continue contributing significantly to presynaptic Ca2+ influx...
April 26, 2023: Journal of Neuroscience
#20
JOURNAL ARTICLE
Joshua B Hack, Kyle Horning, Denise M Juroske Short, John M Schreiber, Joseph C Watkins, Michael F Hammer
BACKGROUND AND OBJECTIVES: Pathogenic variants at the voltage-gated sodium channel gene, SCN8A , are associated with a wide spectrum of clinical disease outcomes. A critical challenge for neurologists is to determine whether patients carry gain-of-function (GOF) or loss-of-function (LOF) variants to guide treatment decisions, yet in vitro studies to infer channel function are often not feasible in the clinic. In this study, we develop a predictive modeling approach to classify variants based on clinical features present at initial diagnosis...
June 2023: Neurology. Genetics
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