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Article

[MECP2 mutation in a male patient identified in the background of severe epileptic encephalopathy].

Orvosi hetilap - 1 Dec 2019

Düh Adrienn, Till Ágnes, Bánfai Zsolt, Hegyi Márta, Melegh Béla, Hadzsiev Kinga

Abstract excerpt

Here we report on a severe, neonatal onset epileptic encephalopathy manifested in a currently 2-year-old boy with no family history of neurological disease. Extensive clinical investigations were unable to clarify the etiology of the infant's condition characterized by drug-resistant seizures and markedly delayed developmental skills. As in this class of disorders a genetic cause might be identified, a...

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Source

Identifiers

PMID: 31838863
DOI: 10.1556/650.2019.31520

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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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