ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2014
Epileptic encephalopathies: new genes and new pathways.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 110 citations in OpenAlex.
- A Novel Loss of Function Variant inMolecular syndromology · 2025Article
- Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies.Biomolecules · 2025Review
- Continuous Spike-Waves during Slow Sleep Today: An Update.Children (Basel, Switzerland) · 2024Review
- STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy.International journal of molecular sciences · 2023Article
- Cohort of Phenotype, Genotype, and Outcome ofJournal of pediatric genetics · 2023Article
- Towards Zebrafish Models of CNS Channelopathies.International journal of molecular sciences · 2022Review
- A novelMolecular medicine reports · 2022Article
- Magnetic resonance imaging findings in children with intractable epilepsy compared to children with medical responsive epilepsy.Iranian journal of child neurology · 2022Article
- A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.Journal of personalized medicine · 2020Article
- An Update to Approach to the Childhood Electroclinical Syndromes.Indian journal of pediatrics · 2020Review
- Rare variants in the GABAMolecular genetics & genomic medicine · 2020Article
- From Genetic Testing to Precision Medicine in Epilepsy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020Review
- Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.Brain : a journal of neurology · 2019Article
- Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants inNPJ genomic medicine · 2019Article
- A Child with a c.6923_6928dup (p.Arg2308_Met2309dup)International journal of molecular sciences · 2018Article
- Benign and severe early-life seizures: a round in the first year of life.Italian journal of pediatrics · 2018Review
- Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.Orphanet journal of rare diseases · 2018Article
- ACTH and PMX53 recover synaptic transcriptome alterations in a rat model of infantile spasms.Scientific reports · 2018Article
- Lennox-Gastaut syndrome: a comprehensive review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2018Review
- Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.Molecular neurobiology · 2018Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epileptic encephalopathies represent a group of devastating epileptic disorders that occur early in life and are often characterized by pharmaco-resistant epilepsy, persistent severe electroencephalographic abnormalities, and cognitive dysfunction or decline. Next generation sequencing technologies have increased the speed of gene discovery tremendously. Whereas ion channel genes were long considered to be the only significant group of genes implicated in the genetic epilepsies, a growing number of non-ion-channel genes are now being identified. As a subgroup of the genetically mediated epilepsies, epileptic encephalopathies are complex and heterogeneous disorders, making diagnosis and treatment decisions difficult. Recent exome sequencing data suggest that mutations causing epileptic encephalopathies are often sporadic, typically resulting from de novo dominant mutations in a single autosomal gene, although inherited autosomal recessive and X-linked forms also exist. In this review we provide a summary of the key features of several early- and mid-childhood onset epileptic encephalopathies including Ohtahara syndrome, Dravet syndrome, Infantile spasms and Lennox Gastaut syndrome. We review the recent next generation sequencing findings that may impact treatment choices. We also describe the use of conventional and newer anti-epileptic and hormonal medications in the various syndromes based on their genetic profile. At a biological level, developments in cellular reprogramming and genome editing represent a new direction in modeling these pediatric epilepsies and could be used in the development of novel and repurposed therapies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.