Potassium channel gain of function in epilepsy: an unresolved paradox

Z Niday, AV Tzingounis - The Neuroscientist, 2018 - journals.sagepub.com
Exome and targeted sequencing have revolutionized clinical diagnosis. This has been
particularly striking in epilepsy and neurodevelopmental disorders, for which new genes or …

Cholinergic modulation of striatal microcircuits

N Abudukeyoumu, T Hernandez‐Flores… - European Journal of …, 2019 - Wiley Online Library
The purpose of this review is to bridge the gap between earlier literature on striatal
cholinergic interneurons and mechanisms of microcircuit interaction demonstrated with the …

Hyperexcitable arousal circuits drive sleep instability during aging

SB Li, VM Damonte, C Chen, GX Wang, JM Kebschull… - Science, 2022 - science.org
Sleep quality declines with age; however, the underlying mechanisms remain elusive. We
found that hyperexcitable hypocretin/orexin (Hcrt/OX) neurons drive sleep fragmentation …

Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy

A Goto, A Ishii, M Shibata, Y Ihara, EC Cooper… - …, 2019 - Wiley Online Library
Objective Pathogenic variants of KCNQ 2, which encode a potassium channel subunit,
cause either benign (familial) neonatal epilepsy—B (F) NE)—or KCNQ 2 encephalopathy …

[HTML][HTML] Structural basis for the modulation of human KCNQ4 by small-molecule drugs

T Li, K Wu, Z Yue, Y Wang, F Zhang, H Shen - Molecular Cell, 2021 - cell.com
Among the five KCNQ channels, also known as the K v 7 voltage-gated potassium (K v)
channels, KCNQ2–KCNQ5 control neuronal excitability. Dysfunctions of KCNQ2–KCNQ5 …

[HTML][HTML] Melanopsin phototransduction is repurposed by ipRGC subtypes to shape the function of distinct visual circuits

T Sonoda, SK Lee, L Birnbaumer, TM Schmidt - Neuron, 2018 - cell.com
Melanopsin is expressed in distinct types of intrinsically photosensitive retinal ganglion cells
(ipRGCs), which drive behaviors from circadian photoentrainment to contrast detection. A …

Ultrastructural anatomy of nodes of Ranvier in the peripheral nervous system as revealed by STED microscopy

E D'Este, D Kamin, F Balzarotti… - Proceedings of the …, 2017 - National Acad Sciences
We used stimulated emission depletion (STED) superresolution microscopy to analyze the
nanoscale organization of 12 glial and axonal proteins at the nodes of Ranvier of teased …

[HTML][HTML] Loss-of-function and gain-of-function mutations in KCNQ5 cause intellectual disability or epileptic encephalopathy

A Lehman, S Thouta, GMS Mancini, S Naidu… - The American Journal of …, 2017 - cell.com
KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it
is widely expressed in the brain and generates M-type current. Exome sequencing identified …

Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle

K Bonnycastle, EC Davenport… - Journal of …, 2021 - Wiley Online Library
The activity‐dependent fusion, retrieval and recycling of synaptic vesicles is essential for the
maintenance of neurotransmission. Until relatively recently it was believed that most …

Voltage-and calcium-gated ion channels of neurons in the vertebrate retina

MJ Van Hook, S Nawy, WB Thoreson - Progress in retinal and eye research, 2019 - Elsevier
In this review, we summarize studies investigating the types and distribution of voltage-and
calcium-gated ion channels in the different classes of retinal neurons: rods, cones …