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 …

Mechanisms of action of antiseizure drugs and the ketogenic diet

MA Rogawski, W Löscher… - Cold Spring …, 2016 - perspectivesinmedicine.cshlp.org
Antiseizure drugs (ASDs), also termed antiepileptic drugs, are the main form of symptomatic
treatment for people with epilepsy, but not all patients become free of seizures. The …

Pathways modulating neural KCNQ/M (Kv7) potassium channels

P Delmas, DA Brown - Nature Reviews Neuroscience, 2005 - nature.com
K+ channels play a crucial role in regulating the excitability of neurons. Many K+ channels
are, in turn, regulated by neurotransmitters. One of the first neurotransmitter-regulated …

Modulation of Kv7 channels and excitability in the brain

DL Greene, N Hoshi - Cellular and Molecular Life Sciences, 2017 - Springer
Neuronal Kv7 channels underlie a voltage-gated non-inactivating potassium current known
as the M-current. Due to its particular characteristics, Kv7 channels show pronounced …

Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior

HC Peters, H Hu, O Pongs, JF Storm, D Isbrandt - Nature neuroscience, 2005 - nature.com
In humans, mutations in the KCNQ2 or KCNQ3 potassium-channel genes are associated
with an inherited epilepsy syndrome. We have studied the contribution of KCNQ/M-channels …

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7. 2 and Kv7. 3 potassium channel subunits

F Miceli, MV Soldovieri, P Ambrosino… - Journal of …, 2015 - Soc Neuroscience
Mutations in Kv7. 2 (KCNQ2) and Kv7. 3 (KCNQ3) genes, encoding for voltage-gated K+
channel subunits underlying the neuronal M-current, have been associated with a wide …

Kv7/KCNQ/M and HCN/h, but not KCa2/SK channels, contribute to the somatic medium after‐hyperpolarization and excitability control in CA1 hippocampal pyramidal …

N Gu, K Vervaeke, H Hu, JF Storm - The Journal of physiology, 2005 - Wiley Online Library
In hippocampal pyramidal cells, a single action potential (AP) or a burst of APs is followed by
a medium afterhyperpolarization (mAHP, lasting∼ 0.1 s). The currents underlying the mAHP …

Potassium channels in Parkinson's disease: potential roles in its pathogenesis and innovative molecular targets for treatment

X Chen, Y Feng, RJ Quinn, DL Pountney… - Pharmacological …, 2023 - ASPET
Parkinson's disease (PD) is a neurodegenerative disorder characterized by selective loss of
dopaminergic neurons in the substantia nigra pars compacta (SNpc) region of the midbrain …

Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction

P Nappi, F Miceli, MV Soldovieri, P Ambrosino… - … -European Journal of …, 2020 - Springer
Seizures are the most common neurological manifestation in the newborn period, with an
estimated incidence of 1.8–3.5 per 1000 live births. Prolonged or intractable seizures have a …

Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits

F Miceli, MV Soldovieri, P Ambrosino… - Proceedings of the …, 2013 - National Acad Sciences
Mutations in the KV7. 2 gene encoding for voltage-dependent K+ channel subunits cause
neonatal epilepsies with wide phenotypic heterogeneity. Two mutations affecting the same …