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References from Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients. Local targets link to admitted publications; unresolved targets remain external evidence.
ILAE official report: a practical clinical definition of epilepsy
10.1111/epi.12550 · 2014 · External reference
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra‐rare genetic risk across disorder subtypes
10.1038/s41593-024-01747-8 · 2024 · External reference
Epilepsy: new advances
10.1016/s0140-6736(14)60456-6 · 2015 · External reference
Global, regional, and national burden of epilepsy, 1990‐2016: a systematic analysis for the global burden of disease study 2016
10.1016/s1474-4422(18)30454-x · 2019 · External reference
Risk of SUDEP during infancy
10.1016/j.yebeh.2021.107896 · 2022 · External reference
ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology
10.1111/epi.13709 · 2017 · External reference
Etiology, syndrome diagnosis, and cognition in childhood‐onset epilepsy: a population‐based study
10.1002/epi4.12036 · 2017 · External reference
Seizures, syndromes, and etiologies in childhood epilepsy: the international league against epilepsy 1981, 1989, and 2017 classifications used in a population‐based cohort
10.1111/epi.13913 · 2017 · External reference
Incidence of childhood and youth epilepsy: a population‐based prospective cohort study utilizing current international league against epilepsy classifications for seizures, syndromes, and etiologies
10.1111/epi.18238 · 2025 · External reference
Genetics of pediatric epilepsy: next‐generation sequencing in clinical practice
10.3390/genes13081466 · 2022 · External reference
De novo variants in neurodevelopmental disorders with epilepsy
10.1038/s41588-018-0143-7 · 2018 · External reference
Data‐driven historical characterization of epilepsy‐associated genes
10.1016/j.ejpn.2022.12.005 · 2023 · External reference
A comprehensive review of performance of next‐generation sequencing platforms
10.1155/2022/3457806 · 2022 · External reference
Navigating the channels and beyond: unravelling the genetics of the epilepsies
10.1016/s1474-4422(08)70039-5 · 2008 · External reference
Epilepsy genetics‐‐past, present, and future
10.1016/j.gde.2011.01.005 · 2011 · External reference
Integrative analysis of epilepsy‐associated genes reveals expression‐phenotype correlations
10.1038/s41598-024-53494-2 · 2024 · External reference
Forward genetics‐based approaches to understanding the systems biology and molecular mechanisms of epilepsy
10.3390/ijms24065280 · 2023 · External reference
Gene ontology: tool for the unification of biology. The gene ontology consortium
10.1038/75556 · 2000 · External reference
The gene ontology knowledgebase in 2023
2023 · External reference
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
10.1111/cge.14061 · 2021 · External reference
clusterProfiler: an R package for comparing biological themes among gene clusters
10.1089/omi.2011.0118 · 2012 · External reference
Activating mutations in PAK1, encoding p21‐activated kinase 1, cause a neurodevelopmental disorder
10.1016/j.ajhg.2018.09.005 · 2018 · External reference
Biallelic loss‐of‐function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder
10.1016/j.gim.2024.101097 · 2024 · External reference
Mutations in PIGU impair the function of the GPI Transamidase complex, causing severe intellectual disability, epilepsy, and brain anomalies
10.1016/j.ajhg.2019.06.009 · 2019 · External reference
Exploring potential key genes and disease mechanisms in early‐onset genetic epilepsy via integrated bioinformatics analysis
10.1016/j.nbd.2025.106888 · 2025 · External reference
Clinical whole genome sequencing in pediatric epilepsy: genetic and phenotypic spectrum of 733 individuals
10.1111/epi.18403 · 2025 · External reference
Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy
10.1111/epi.17857 · 2024 · External reference
The genetic landscape of the epileptic encephalopathies of infancy and childhood
10.1016/s1474-4422(15)00250-1 · 2016 · External reference
Novel mutations and phenotypes of epilepsy‐associated genes in epileptic encephalopathies
10.1111/gbb.12456 · 2018 · External reference
Unresolved reference
2017 · External reference
Deciphering the natural history of SCN8A‐related disorders
10.1212/wnl.0000000000213533 · 2025 · External reference
Delineating clinical and developmental outcomes in STXBP1‐related disorders
10.1093/brain/awad287 · 2023 · External reference
Whole exome sequencing based diagnostics in complex childhood epilepsy syndromes‐a cohort study on clinical utility
10.1111/cge.70061 · 2025 · External reference
Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort
10.3389/fneur.2023.1218706 · 2023 · External reference
Whole exome sequencing as a first‐line molecular genetic test in developmental and epileptic encephalopathies
10.3390/ijms25021146 · 2024 · External reference
GWAS meta‐analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype‐specific genetic architecture
10.1038/s41588-023-01485-w · 2023 · External reference
Coexpression enrichment analysis at the single‐cell level reveals convergent defects in neural progenitor cells and their cell‐type transitions in neurodevelopmental disorders
10.1101/gr.254987.119 · 2020 · External reference
Epileptic phenotypes associated with SNAREs and related synaptic vesicle exocytosis machinery
10.3389/fneur.2021.806506 · 2021 · External reference
Genetic epilepsies and developmental epileptic encephalopathies with early onset: a multicenter study
10.3390/ijms25021248 · 2024 · External reference
Breaking the synaptic vesicle cycle: mechanistic insights into presynaptic dysfunctions in epilepsy
10.1177/15357597251317898 · 2025 · External reference
Ion Channel functions in early brain development
10.1016/j.tins.2019.12.004 · 2020 · External reference
Effects of seizures on developmental processes in the immature brain
10.1016/s1474-4422(06)70626-3 · 2006 · External reference
Exploring the landscape of pre‐ and post‐synaptic pediatric disorders with epilepsy: a narrative review on molecular mechanisms involved
10.3390/ijms252211982 · 2024 · External reference
Genetic advancements in infantile epileptic spasms syndrome and opportunities for precision medicine
10.3390/genes15030266 · 2024 · External reference
Actin cytoskeleton role in the maintenance of neuronal morphology and long‐term memory
10.3390/cells10071795 · 2021 · External reference
Shank synaptic scaffold proteins: keys to understanding the pathogenesis of autism and other synaptic disorders
10.1111/jnc.13232 · 2015 · External reference
Long‐term potentiation requires a rapid burst of dendritic mitochondrial fission during induction
10.1016/j.neuron.2018.09.025 · 2018 · External reference
Synaptic alterations and neuronal firing in human epileptic neocortical excitatory networks
10.3389/fnsyn.2023.1233569 · 2023 · External reference
