Developmental and epileptic encephalopathies after negative or inconclusive genetic testing: what is next?

@article{AledoSerrano2021DevelopmentalAE,
  title={Developmental and epileptic encephalopathies after negative or inconclusive genetic testing: what is next?},
  author={{\'A}ngel Aledo-Serrano and Roc{\'i}o S{\'a}nchez-Alcudia and Rafael Toledano and Irene Garc{\'i}a-Morales and {\'A}lvaro Beltr{\'a}n-Corbellini and Isabel del Pino and Antonio Gil-Nagel},
  journal={Journal of Translational Genetics and Genomics},
  year={2021}
}
The redefinition of classical electroclinical syndromes and the emergence of neurogenetics has led to a revolution in the field of developmental and epileptic encephalopathies (DEEs). In this context, advances in genetic techniques are leading to the final diagnosis of a large proportion of patients with DEE. However, up to 50% of patients with DEE remain undiagnosed. For patients with uncertain genetic etiology, there is a pressing need for the implementation of new targeted treatments and… 

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