A Novel Phenotype in a Previously Described Epilepsy-Aphasia Disorder.

doi:10.1016/j.spen.2018.04.004

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Article

A Novel Phenotype in a Previously Described Epilepsy-Aphasia Disorder.

Seminars in pediatric neurology - 1 Jul 2018

Fine Anthony L, Wong-Kisiel Lily C, Wirrell Elaine C

Abstract excerpt

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...

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Identifiers

PMID: 29961510
DOI: 10.1016/j.spen.2018.04.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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