New insights into the generation and role of de novo mutations in health and disease
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 …
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 …
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
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 …
among regions of the brain and understanding the mechanism of brain dysfunction. Despite …
All-optical electrophysiology in mammalian neurons using engineered microbial rhodopsins
All-optical electrophysiology—spatially resolved simultaneous optical perturbation and
measurement of membrane voltage—would open new vistas in neuroscience research. We …
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 …
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 …
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 …
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 …
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
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 …
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 …
febrile seizures and is caused by heterozygous loss-of-function mutations of the voltage …