A Novel Phenotype in a Previously Described Epilepsy—Aphasia Disorder

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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
Volume26
DOIs
StatePublished - Jul 1 2018

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Epilepsy
Brain Diseases
Phenotype
Mutation
Genetic Testing
Genes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

A Novel Phenotype in a Previously Described Epilepsy—Aphasia Disorder. / Fine, Anthony L.; Wong-Kisiel, Lily; Wirrell, Elaine C.

In: Seminars in Pediatric Neurology, Vol. 26, 01.07.2018, p. 21-24.

Research output: Contribution to journalArticle

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