Delivery of CRISPR-Cas tools for in vivo genome editing therapy: Trends and challenges

EA Taha, J Lee, A Hotta - Journal of Controlled Release, 2022‏ - Elsevier
The discovery of clustered regularly interspaced short palindromic repeats (CRISPR)
genome editing technology opened the door to provide a versatile approach for treating …

Epigenome editing technologies for discovery and medicine

SR McCutcheon, D Rohm, N Iglesias… - Nature …, 2024‏ - nature.com
Epigenome editing has rapidly evolved in recent years, with diverse applications that
include elucidating gene regulation mechanisms, annotating coding and noncoding …

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023‏ - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

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 …

Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome

Z Han, C Chen, A Christiansen, S Ji, Q Lin… - Science translational …, 2020‏ - science.org
Dravet syndrome (DS) is an intractable developmental and epileptic encephalopathy
caused largely by de novo variants in the SCN1A gene, resulting in haploinsufficiency of the …

CRISPR-based therapeutic genome editing: strategies and in vivo delivery by AAV vectors

D Wang, F Zhang, G Gao - Cell, 2020‏ - cell.com
The development of clustered regularly interspaced short-palindromic repeat (CRISPR)-
based biotechnologies has revolutionized the life sciences and introduced new therapeutic …

Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

JK Knowles, I Helbig, CS Metcalf, LS Lubbers… - …, 2022‏ - Wiley Online Library
The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …

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 …

Sodium channelopathies in neurodevelopmental disorders

MH Meisler, SF Hill, W Yu - Nature Reviews Neuroscience, 2021‏ - nature.com
The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …

[HTML][HTML] High-capacity adenoviral vectors: expanding the scope of gene therapy

A Ricobaraza, M Gonzalez-Aparicio… - International Journal of …, 2020‏ - mdpi.com
The adaptation of adenoviruses as gene delivery tools has resulted in the development of
high-capacity adenoviral vectors (HC-AdVs), also known, helper-dependent or “gutless” …