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 …

Sodium channelopathies of skeletal muscle and brain

M Mantegazza, S Cestèle… - Physiological …, 2021 - journals.physiology.org
Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes

EJH Van Hugte, EI Lewerissa, KM Wu, N Scheefhals… - Brain, 2023 - academic.oup.com
Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures,
behavioural problems and developmental delay. Eighty per cent of patients with Dravet …

NBI-921352, a first-in-class, NaV1. 6 selective, sodium channel inhibitor that prevents seizures in Scn8a gain-of-function mice, and wild-type mice and rats

JP Johnson, T Focken, K Khakh, PK Tari, C Dube… - Elife, 2022 - elifesciences.org
Abstract NBI-921352 (formerly XEN901) is a novel sodium channel inhibitor designed to
specifically target Na V 1.6 channels. Such a molecule provides a precision-medicine …

MicroRNA-335-5p suppresses voltage-gated sodium channel expression and may be a target for seizure control

M Heiland, NMC Connolly, O Mamad… - Proceedings of the …, 2023 - National Acad Sciences
There remains an urgent need for new therapies for treatment-resistant epilepsy. Sodium
channel blockers are effective for seizure control in common forms of epilepsy, but loss of …

Antisense oligonucleotides restore excitability, GABA signalling and sodium current density in a Dravet syndrome model

Y Yuan, L Lopez-Santiago, N Denomme, C Chen… - Brain, 2024 - academic.oup.com
Dravet syndrome is an intractable developmental and epileptic encephalopathy caused by
de novo variants in SCN1A resulting in haploinsufficiency of the voltage-gated sodium …

Voltage gated sodium channel genes in epilepsy: mutations, functional studies, and treatment dimensions

IA Ademuwagun, SO Rotimi, S Syrbe… - Frontiers in …, 2021 - frontiersin.org
Genetic epilepsy occurs as a result of mutations in either a single gene or an interplay of
different genes. These mutations have been detected in ion channel and non-ion channel …

Ion channels involvement in neurodevelopmental disorders

MC D'Adamo, A Liantonio, E Conte, M Pessia, P Imbrici - Neuroscience, 2020 - Elsevier
Inherited and sporadic mutations in genes encoding for brain ion channels, affecting
membrane expression or biophysical properties, have been associated with …

[HTML][HTML] Highlighting roles of autophagy in human diseases: a perspective from single-cell RNA sequencing analyses

A Khalafiyan, M Fadaie, F Khara, A Zarrabi… - Drug Discovery …, 2024 - Elsevier
Autophagy, the lysosome-driven breakdown of intracellular components, is pivotal in
regulating eukaryotic cellular processes and maintaining homeostasis, making it …

Mechanisms underlying CSD initiation implicated by genetic mouse models of migraine

D Pietrobon, KC Brennan - The Journal of Headache and Pain, 2025 - Springer
A key unanswered question in migraine neurobiology concerns the mechanisms that make
the brain of migraineurs susceptible to cortical spreading depression (CSD, a spreading …