Diagnostic gap in genetic epilepsies: A matter of age

  title={Diagnostic gap in genetic epilepsies: A matter of age},
  author={{\'A}ngel Aledo-Serrano and Irene Garc{\'i}a-Morales and Rafael Toledano and Adolfo Jim{\'e}nez-Huete and Beatriz Parejo and Carla Anciones and Ana Mingorance and Primitivo Ramos and Antonio Gil-Nagel},
  journal={Epilepsy \& Behavior},
Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies
This review aims to provide an updated perspective of epilepsy genetics and precision medicine in adult patients, with special focus on developmental and epileptic encephalopathies (DEEs), covering
Developmental and epileptic encephalopathies after negative or inconclusive genetic testing: what is next?
A wide perspective on aspects that will need further research, especially in non-Mendelian inheritance DEEs, such as those related to somatic mosaicism of the central nervous system or epigenetic and oligogenic mechanisms are provided.
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
A dynamic diagnostic procedure used to investigate 17 patients with DEE or EE with previous negative or inconclusive genetic testing by whole-exome sequencing (WES), leading to a definite diagnosis in about 59% of participants, emphasizes the role of recessive and somatic variants, new genetic mechanisms, and the complexity of genotype–phenotype associations.
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data
While genetic studies of epilepsies can be performed in thousands of individuals, phenotyping remains a manual, non-scalable task. A particular challenge is capturing the evolution of complex


Early-Life Epilepsies and the Emerging Role of Genetic Testing
Thorough genetic investigation emphasizing sequencing tests should be incorporated into the initial evaluation of newly presenting early-life epilepsies and not just reserved for those with severe presentations and poor outcomes.
Age Is Just a Number: Adults Deserve the Same Access to Genetic Testing as Children
It is demonstrated that a commercial epilepsy gene panel can be an important resource in clinical practice, identifying the etiology in 22% of adults with epilepsy and intellectual disability.
Genetic testing in the epilepsies—Report of the ILAE Genetics Commission
This report presents a framework for considering the clinical utility of genetic testing that can be applied to many different syndromes and clinical contexts, but in some of these it carries implications for daily clinical practice.
Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain.
The epidemiology of DS in Spain is not well known and several areas of unmet needs still exist, so epidemiological studies, consensus criteria, easy access to genetic testing, treatment options, training and research into quality of life aspects are highly needed.
Obtaining genetic testing in pediatric epilepsy
An extensive literature review of available information as it pertains to genetic testing and genetics in pediatric epilepsy is performed and some of the genetic testing methods available are discussed along with their general advantages and disadvantages.
Epilepsy and developmental disorders: Next generation sequencing in the clinic.
  • J. Symonds, A. Mctague
  • Medicine, Psychology
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • 2019
Prevalence of the Epilepsies in Children and Adolescents
The prevalence of epilepsy in children and adolescents from birth through age 19 years was determined for residents of two counties in central Oklahoma, yielding a prevalence rate of 4.71 per 1,000.
Recent Advances in the Drug Treatment of Dravet Syndrome
The results of new drugs for Dravet syndrome, including stiripentol, cannabidiol, and fenfluramine, are very promising, with one quarter of cases achieving near seizure freedom over the duration of the trial.