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Article

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.

Journal of medical genetics - 1 Feb 2013

Edvardson Simon, Oz Shimrit, Abulhijaa Fida Aziz, Taher Flora Barghouthi, Shaag Avraham, Zenvirt Shamir, Dascal Nathan, Elpeleg Orly

Abstract excerpt

BACKGROUND: Early infantile epileptic encephalopathies usually manifest as severely impaired cognitive and motor development and often result in a devastating permanent global developmental delay and intellectual disability. A large set of genes has been implicated in the aetiology of this heterogeneous group of disorders. Among these, the ion channelopathies play a prominent role. In this study, we investigated...

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Identifiers

PMID: 23339110
DOI: 10.1136/jmedgenet-2012-101223

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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