Autism spectrum disorder: neurodevelopmental risk factors, biological mechanism, and precision therapy
L Wang, B Wang, C Wu, J Wang, M Sun - International journal of …, 2023 - mdpi.com
Autism spectrum disorder (ASD) is a heterogeneous, behaviorally defined
neurodevelopmental disorder. Over the past two decades, the prevalence of autism …
neurodevelopmental disorder. Over the past two decades, the prevalence of autism …
Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications
CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …
On-demand cell-autonomous gene therapy for brain circuit disorders
Several neurodevelopmental and neuropsychiatric disorders are characterized by
intermittent episodes of pathological activity. Although genetic therapies offer the ability to …
intermittent episodes of pathological activity. Although genetic therapies offer the ability to …
Identifying mutations in epilepsy genes: impact on treatment selection
P Perucca, E Perucca - Epilepsy research, 2019 - Elsevier
The last decade saw impressive advances not only in the discovery of gene mutations
causing epilepsy, but also in unraveling the molecular mechanisms underlying the clinical …
causing epilepsy, but also in unraveling the molecular mechanisms underlying the clinical …
KCNMA1-linked channelopathy
CS Bailey, HJ Moldenhauer, SM Park… - Journal of General …, 2019 - rupress.org
KCNMA1 encodes the pore-forming α subunit of the “Big K+”(BK) large conductance calcium
and voltage-activated K+ channel. BK channels are widely distributed across tissues …
and voltage-activated K+ channel. BK channels are widely distributed across tissues …
Novel treatments in autism spectrum disorder
D Baribeau, J Vorstman… - Current Opinion in …, 2022 - journals.lww.com
Recent data support the use of behavioural and psychological interventions for social
communication and anxiety in ASD; data are more limited regarding pharmacotherapy for …
communication and anxiety in ASD; data are more limited regarding pharmacotherapy for …
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 …
CRISPR-mediated gene editing shows promise to cure genetic pathologies, although …
Homeostatic plasticity in epilepsy
In the healthy brain, neuronal excitability and synaptic strength are homeostatically
regulated to keep neuronal network activity within physiological boundaries. Epilepsy is …
regulated to keep neuronal network activity within physiological boundaries. Epilepsy is …
[HTML][HTML] Genetic therapeutic advancements for Dravet syndrome
E Chilcott, JA Díaz, C Bertram, M Berti, R Karda - Epilepsy & Behavior, 2022 - Elsevier
Dravet Syndrome is a genetic epileptic syndrome characterized by severe and intractable
seizures associated with cognitive, motor, and behavioral impairments. The disease is also …
seizures associated with cognitive, motor, and behavioral impairments. The disease is also …
[HTML][HTML] Gene therapy in epilepsy
L Zhang, Y Wang - Biomedicine & Pharmacotherapy, 2021 - Elsevier
Gene therapy may constitute a promising alternative to conventional pharmacological tools
and surgeries for epilepsy. For primary epilepsy, a single variant leading to a significant …
and surgeries for epilepsy. For primary epilepsy, a single variant leading to a significant …