ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2020
Epilepsy and brain channelopathies from infancy to adulthood.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Rethinking cortical hypertrophy in temporal lobe epilepsy.Brain : a journal of neurology · 2026Review
- A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient.Annals of clinical and translational neurology · 2025Article
- RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis.Molecular genetics & genomic medicine · 2025Article
- Special Issue: "Recent Advances in Ion Channels and Ion Channelopathies".International journal of molecular sciences · 2024Article
- Brownian Aging as One of the Mechanistic Components That Shape the Single-Channel Ionic Currents through Biological and Synthetic Membranes.Membranes · 2023Article
- "Fifth-day fits" revisited: A literature review of benign idiopathic neonatal seizures and comparison with KCNQ2- and KCNQ3-associated benign familial epilepsy syndromes.Annals of the Child Neurology Society · 2023Review
- Sigma-1 receptor and seizures.Pharmacological research · 2023Review
- Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients.Frontiers in neurology · 2023Article
- A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.Orphanet journal of rare diseases · 2022Article
- Review
- Human iPSC Modeling of Genetic Febrile Seizure Reveals Aberrant Molecular and Physiological Features Underlying an Impaired Neuronal Activity.Biomedicines · 2022Article
- Shared Etiology in Autism Spectrum Disorder and Epilepsy with Functional Disability.Behavioural neurology · 2022Review
- Modeling Epilepsy Using Human Induced Pluripotent Stem Cells-Derived Neuronal Cultures Carrying Mutations in Ion Channels and the Mechanistic Target of Rapamycin Pathway.Frontiers in molecular neuroscience · 2022Review
- Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.Neurogenetics · 2022Article
- Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.Frontiers in neurology · 2022Article
- Rodent Brain Pathology, Audiogenic Epilepsy.Biomedicines · 2021Review
- Inherited Developmental and Epileptic Encephalopathies.Neurology international · 2021Review
- Alternating hemiparesis in the context of hemolytic uremic syndrome and COVID-19 positivity.Epilepsy & behavior reports · 2021Article
- Revisiting the Impact of Neurodegenerative Proteins in Epilepsy: Focus on Alpha-Synuclein, Beta-Amyloid, and Tau.Biology · 2020Review
Corrections and comments
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Authors and funding
7 authors.
Funding
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Abstract
Genetic brain channelopathies result from inherited or de novo mutations of genes encoding ion channel subunits within the central nervous system. Most neurological channelopathies arise in childhood with paroxysmal or episodic symptoms, likely because of a transient impairment of homeostatic mechanisms regulating membrane excitability, and the prototypical expression of this impairment is epilepsy. Migraine, episodic ataxia and alternating hemiplegia can also occur, as well as chronic phenotypes, such as spinocerebellar ataxias, intellectual disability and autism spectrum disorder. Voltage-gated and ligand-gated channels may be involved. In most cases, a single gene may be associated with a phenotypical spectrum that shows variable expressivity. Different clinical features may arise at different ages and the adult phenotype may be remarkably modified from the syndrome onset in childhood or adolescence. Recognizing the prominent phenotypical traits of brain channelopathies is essential to perform appropriate diagnostic investigations and to provide the better care not only in the paediatric setting but also for adult patients and their caregivers. Herein, we provide an overview of genetic brain channelopathies associated with epilepsy, highlight the different molecular mechanisms and describe the different clinical characteristics which may prompt the clinician to suspect specific syndromes and to possibly establish tailored treatments.
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