Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
disorders characterized by early-onset, often severe epileptic seizures and EEG …
[HTML][HTML] KCNQ2-related disorders
KCNQ2-related disorders represent a continuum of overlap** neonatal epileptic
phenotypes ranging from self-limited familial neonatal epilepsy (SLFNE) at the mild end to …
phenotypes ranging from self-limited familial neonatal epilepsy (SLFNE) at the mild end to …
KCNQ2/3 gain-of-function variants and cell excitability: differential effects in CA1 versus L2/3 pyramidal neurons
N Varghese, B Moscoso, A Chavez… - Journal of …, 2023 - Soc Neuroscience
Gain-of-function (GOF) pathogenic variants in the potassium channels KCNQ2 and KCNQ3
lead to hyperexcitability disorders such as epilepsy and autism spectrum disorders …
lead to hyperexcitability disorders such as epilepsy and autism spectrum disorders …
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function …
Background Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-
related disorders, correlated with effects on biophysical features of heterologously …
related disorders, correlated with effects on biophysical features of heterologously …
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy
M Nappi, V Barrese, L Carotenuto… - Proceedings of the …, 2022 - National Acad Sciences
Developmental and epileptic encephalopathies (DEEs) are neurodevelopmental diseases
characterized by refractory epilepsy, distinct electroencephalographic and neuroradiological …
characterized by refractory epilepsy, distinct electroencephalographic and neuroradiological …
Glial KCNQ K+ channels control neuronal output by regulating GABA release from glia in C. elegans
B Graziano, L Wang, OR White, DH Kaplan… - Neuron, 2024 - cell.com
KCNQs are voltage-gated K+ channels that control neuronal excitability and are mutated in
epilepsy and autism spectrum disorder (ASD). KCNQs have been extensively studied in …
epilepsy and autism spectrum disorder (ASD). KCNQs have been extensively studied in …
KCNQ2 and KCNQ5 form heteromeric channels independent of KCNQ3
H Soh, K Springer, K Doci… - Proceedings of the …, 2022 - National Acad Sciences
KCNQ2 and KCNQ3 channels are associated with multiple neurodevelopmental disorders
and are also therapeutic targets for neurological and neuropsychiatric diseases. For more …
and are also therapeutic targets for neurological and neuropsychiatric diseases. For more …
Beyond retigabine: Design, synthesis, and pharmacological characterization of a potent and chemically stable neuronal Kv7 channel activator with anticonvulsant …
S Musella, L Carotenuto, N Iraci, G Baroli… - Journal of Medicinal …, 2022 - ACS Publications
Neuronal Kv7 channels represent important pharmacological targets for hyperexcitability
disorders including epilepsy. Retigabine is the prototype Kv7 activator clinically approved for …
disorders including epilepsy. Retigabine is the prototype Kv7 activator clinically approved for …
KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties
MC Cioclu, I Mosca, P Ambrosino, D Puzo… - Annals of …, 2023 - Wiley Online Library
Objective Pathogenic variants in KCNT2 are rare causes of developmental epileptic
encephalopathy (DEE). We herein describe the phenotypic and genetic features of patients …
encephalopathy (DEE). We herein describe the phenotypic and genetic features of patients …
The Role of Kv7 Channels in Neural Plasticity and Behavior
Activity-dependent persistent changes in neuronal intrinsic excitability and synaptic strength
are widely thought to underlie learning and memory. Voltage-gated KCNQ/Kv7 potassium …
are widely thought to underlie learning and memory. Voltage-gated KCNQ/Kv7 potassium …