A McTague, G Rossignoli, A Ferrini, S Barral… - Frontiers in Genome …, 2021 - frontiersin.org
Therapeutic advances for neurological disorders are challenging due to limited accessibility of the human central nervous system and incomplete understanding of disease …
MS Javaid, T Tan, N Dvir, A Anderson, T J. O'Brien… - Cells, 2022 - mdpi.com
The challenges in making animal models of complex human epilepsy phenotypes with varied aetiology highlights the need to develop alternative disease models that can address …
Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and the …
S Hirose, Y Tanaka, M Shibata, Y Kimura… - Molecular and Cellular …, 2020 - Elsevier
Epilepsy is among the most common neurological disorders, affecting approximately 50 million people worldwide. Importantly, epilepsy is genetically and etiologically …
AJ Cai, K Gao, F Zhang, YW Jiang - World Journal of Pediatrics, 2024 - Springer
Background Epilepsy is a common neurological disorder with complex pathogenic mechanisms, and refractory epilepsy often lacks effective treatments. Gene therapy is a …
V Zayat, R Szlendak, D Hoffman-Zacharska - Cells, 2022 - mdpi.com
Mutations in the SCN1A gene can cause a variety of phenotypes, ranging from mild forms, such as febrile seizures and generalized epilepsy with febrile seizures plus, to severe, such …
K Uchino, H Kawano, Y Tanaka, Y Adaniya… - Scientific reports, 2021 - nature.com
Dravet syndrome (DS) is an intractable form of childhood epilepsy that occurs in infancy. More than 80% of all patients have a heterozygous abnormality in the SCN1A gene, which …
S Yoshimatsu, T Sone, M Nakajima, T Sato, R Okochi… - PloS one, 2019 - journals.plos.org
Knock-in (KI) gene targeting can be employed for a wide range of applications in stem cell research. However, vectors for KI require multiple complicated processes for construction …
Š Danačíková, B Straka, J Daněk, V Kořínek… - Epilepsia …, 2024 - Wiley Online Library
Epilepsy is the most common chronic neurological disease, affecting nearly 1%–2% of the world's population. Current pharmacological treatment and regimen adjustments are aimed …