A Novel Phenotype in a Previously Described Epilepsy—Aphasia Disorder

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1 Scopus citations


The clinical presentation of patients with epileptic encephalopathies can be heterogenous. When attempting to classify a patient's epilepsy syndrome, challenges can arise due to the phenotypic overlap of various epilepsies as well as the different presentations of mutations within the same gene. Genetic testing can be most helpful in evaluation of children with features spanning several epilepsy phenotypes. In this case, we report on a boy with an epileptic encephalopathy found to have a previously unreported mutation in a recently described gene.

Original languageEnglish (US)
Pages (from-to)21-24
Number of pages4
JournalSeminars in Pediatric Neurology
StatePublished - Jul 1 2018

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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