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Article

Genes of early-onset epileptic encephalopathies: from genotype to phenotype.

Pediatric neurology - 1 Jan 2012

Mastrangelo Mario, Leuzzi Vincenzo

Abstract excerpt

Early-onset epileptic encephalopathies are severe disorders in which cognitive, sensory, and motor development is impaired by recurrent clinical seizures or prominent interictal epileptiform discharges during the neonatal or early infantile periods. They include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and other diseases, e.g., X-linked myoclonic seizures,...

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Source

Identifiers

PMID: 22196487
DOI: 10.1016/j.pediatrneurol.2011.11.003

Genes

ARX
CDKL5
MAGI2
PCDH19
PNKP
PNPO
SPTAN1
STXBP1

Provenance

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