ArticlePloS one2015
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Customized multigene panels in epilepsy: the best things come in small packages.Neurogenetics · 2020Pooled it
- Joint analysis ofNAR genomics and bioinformatics · 2025Article
- Brain connectivity and transcriptional changes induced by rTMS in first-episode major depressive disorder.Translational psychiatry · 2025Article
- Type 1 early infantile epileptic encephalopathy: A case report and literature review.Molecular genetics & genomic medicine · 2024Review
- STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.Journal of neurochemistry · 2021Review
- Review
- Neuromonitoring in Neonatal-Onset Epileptic Encephalopathies.Frontiers in neurology · 2021Review
- Heterozygous loss of epilepsy gene KCNQ2 alters social, repetitive and exploratory behaviors.Genes, brain, and behavior · 2020Article
- Reduced axonal surface expression and phosphoinositide sensitivity in KNeurobiology of disease · 2018Article
- Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.Molecular genetics & genomic medicine · 2018Article
- Male patients affected by mosaic PCDH19 mutations: five new cases.Neurogenetics · 2017Article
- Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.Epilepsia open · 2017Article
- Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.PloS one · 2017Article
- Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.Psychiatric genetics · 2016Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epileptic Encephalopathy (EE) is a heterogeneous condition in which cognitive, sensory and/or motor functions deteriorate as a consequence of epileptic activity, which consists of frequent seizures and/or major interictal paroxysmal activity. There are various causes of EE and they may occur at any age in early childhood. Genetic mutations have been identified to contribute to an increasing number of children with early onset EE which had been previously considered as cryptogenic. We identified 26 patients with Infantile Epileptic Encephalopathy (IEE) of unknown etiology despite extensive workup and without any specific epilepsy syndromic phenotypes. We performed genetic analysis on a panel of 7 genes (ARX, CDKL5, KCNQ2, PCDH19, SCN1A, SCN2A, STXBP1) and identified 10 point mutations [ARX (1), CDKL5 (3), KCNQ2 (2), PCDH19 (1), SCN1A (1), STXBP1 (2)] as well as one microdeletion involving both SCN1A and SCN2A. The high rate (42%) of mutations suggested that genetic testing of this IEE panel of genes is recommended for cryptogenic IEE with no etiology identified. These 7 genes are associated with channelopathies or synaptic transmission and we recommend early genetic testing if possible to guide the treatment strategy.
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