New insights into the generation and role of de novo mutations in health and disease

R Acuna-Hidalgo, JA Veltman, A Hoischen - Genome biology, 2016 - Springer
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …

Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies

J Oyrer, S Maljevic, IE Scheffer, SF Berkovic… - Pharmacological …, 2018 - ASPET
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

3D high-density microelectrode array with optical stimulation and drug delivery for investigating neural circuit dynamics

H Shin, S Jeong, JH Lee, W Sun, N Choi… - Nature communications, 2021 - nature.com
Investigation of neural circuit dynamics is crucial for deciphering the functional connections
among regions of the brain and understanding the mechanism of brain dysfunction. Despite …

All-optical electrophysiology in mammalian neurons using engineered microbial rhodopsins

DR Hochbaum, Y Zhao, SL Farhi, N Klapoetke… - Nature …, 2014 - nature.com
All-optical electrophysiology—spatially resolved simultaneous optical perturbation and
measurement of membrane voltage—would open new vistas in neuroscience research. We …

Cell-Selective Adeno-Associated Virus-Mediated SCN1A Gene Regulation Therapy Rescues Mortality and Seizure Phenotypes in a Dravet Syndrome Mouse Model …

A Tanenhaus, T Stowe, A Young, J McLaughlin… - Human gene …, 2022 - liebertpub.com
Dravet syndrome (DS) is a developmental and epileptic encephalopathy caused by
monoallelic loss-of-function variants in the SCN1A gene. SCN1A encodes for the alpha …

Impaired excitability of somatostatin-and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome

C Tai, Y Abe, RE Westenbroek… - Proceedings of the …, 2014 - National Acad Sciences
Haploinsufficiency of the voltage-gated sodium channel NaV1. 1 causes Dravet syndrome,
an intractable developmental epilepsy syndrome with seizure onset in the first year of life …

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes

EJH Van Hugte, EI Lewerissa, KM Wu, N Scheefhals… - Brain, 2023 - academic.oup.com
Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures,
behavioural problems and developmental delay. Eighty per cent of patients with Dravet …

iPS cell technologies: significance and applications to CNS regeneration and disease

H Okano, S Yamanaka - Molecular brain, 2014 - Springer
In 2006, we demonstrated that mature somatic cells can be reprogrammed to a pluripotent
state by gene transfer, generating induced pluripotent stem (iPS) cells. Since that time, there …

A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome

M Favero, NP Sotuyo, E Lopez, JA Kearney… - Journal of …, 2018 - Soc Neuroscience
Dravet syndrome is a severe, childhood-onset epilepsy largely due to heterozygous loss-of-
function mutation of the gene SCN1A, which encodes the type 1 neuronal voltage-gated …

[HTML][HTML] CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice

T Yamagata, M Raveau, K Kobayashi… - Neurobiology of …, 2020 - Elsevier
Dravet syndrome is a severe infantile-onset epileptic encephalopathy which begins with
febrile seizures and is caused by heterozygous loss-of-function mutations of the voltage …