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Article

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Epilepsia - 1 May 2015

Mercimek-Mahmutoglu Saadet, Patel Jaina, Cordeiro Dawn, Hewson Stacy, Callen David, Donner Elizabeth J, Hahn Cecil D, Kannu Peter, Kobayashi Jeff, Minassian Berge A, Moharir Mahendranath, Siriwardena Komudi, Weiss Shelly K, Weksberg Rosanna, Snead O Carter

Abstract excerpt

OBJECTIVE: Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a single epilepsy genetics clinic. METHODS: We included all patients with intractable epilepsy, global developmental delay, and cognitive dysfunction seen between January 2012 and June 2014 in the Epilepsy Genetics Clinic. Electronic...

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PMID: 25818041
DOI: 10.1111/epi.12954

Genes

KCNQ2
PCDH19
STXBP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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