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Article

Genetic testing of epileptic encephalopathies of infancy: an approach.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Jan 2013

Sharma Suvasini, Prasad Asuri N

Abstract excerpt

The epileptic encephalopathies of infancy are a group of disorders characterized by intractable seizures, persistent abnormality of cortical function documented on EEG, and consequently impaired neuro-developmental outcomes. The etiologies vary and include; structural brain malformations, acquired brain insults, and inborn errors of metabolism in the majority of the affected patients. In a proportion of these...

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Source

Identifiers

PMID: 23250121
DOI: 10.1017/s0317167100012889

Genes

ARX
CDKL5
PCDH19
STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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