Mitochondrial dysfunction and neurological disorders: a narrative review and treatment overview

EE Alshial, MI Abdulghaney, AHS Wadan… - Life Sciences, 2023‏ - Elsevier
Mitochondria play a vital role in the nervous system, as they are responsible for generating
energy in the form of ATP and regulating cellular processes such as calcium (Ca 2+) …

30 years of second-generation antiseizure medications: impact and future perspectives

E Perucca, MJ Brodie, P Kwan, T Tomson - The Lancet Neurology, 2020‏ - thelancet.com
Summary Since 1989, 18 second-generation antiseizure medications have reached the
market, resulting in a greatly increased range of treatment options for patients and …

On-demand cell-autonomous gene therapy for brain circuit disorders

Y Qiu, N O'neill, B Maffei, C Zourray… - Science, 2022‏ - science.org
Several neurodevelopmental and neuropsychiatric disorders are characterized by
intermittent episodes of pathological activity. Although genetic therapies offer the ability to …

Monogenic epilepsies: disease mechanisms, clinical phenotypes, and targeted therapies

R Guerrini, S Balestrini, EC Wirrell, MC Walker - Neurology, 2021‏ - neurology.org
A monogenic etiology can be identified in up to 40% of people with severe epilepsy. To
address earlier and more appropriate treatment strategies, clinicians are required to know …

Current and future prospects for gene therapy for rare genetic diseases affecting the brain and spinal cord

TL Jensen, CR Gøtzsche… - Frontiers in molecular …, 2021‏ - frontiersin.org
In recent years, gene therapy has been raising hopes toward viable treatment strategies for
rare genetic diseases for which there has been almost exclusively supportive treatment. We …

A pH-sensitive closed-loop nanomachine to control hyperexcitability at the single neuron level

A Merolla, C Michetti, M Moschetta, F Vacca… - Nature …, 2024‏ - nature.com
Epilepsy affects 1% of the general population and 30% of patients are resistant to
antiepileptic drugs. Although optogenetics is an efficient antiepileptic strategy, the difficulty of …

Kv1. 1 channelopathies: pathophysiological mechanisms and therapeutic approaches

MC D'adamo, A Liantonio, JF Rolland… - International journal of …, 2020‏ - mdpi.com
Kv1. 1 belongs to the Shaker subfamily of voltage-gated potassium channels and acts as a
critical regulator of neuronal excitability in the central and peripheral nervous systems …

In vivo CRISPRa decreases seizures and rescues cognitive deficits in a rodent model of epilepsy

G Colasante, Y Qiu, L Massimino, C Di Berardino… - Brain, 2020‏ - academic.oup.com
Epilepsy is a major health burden, calling for new mechanistic insights and therapies.
CRISPR-mediated gene editing shows promise to cure genetic pathologies, although …

Mechanisms for cognitive impairment in epilepsy: moving beyond seizures

MR Khalife, RC Scott, AE Hernan - Frontiers in neurology, 2022‏ - frontiersin.org
There has been a major emphasis on defining the role of seizures in the causation of
cognitive impairments like memory deficits in epilepsy. Here we focus on an alternative …

Severe deficiency of the voltage-gated sodium channel NaV1. 2 elevates neuronal excitability in adult mice

J Zhang, X Chen, M Eaton, J Wu, Z Ma, S Lai, A Park… - Cell reports, 2021‏ - cell.com
Scn2a encodes the voltage-gated sodium channel Na V 1.2, a main mediator of neuronal
action potential firing. The current paradigm suggests that Na V 1.2 gain-of-function variants …