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Article

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2020

Cabasson Sébastien, Van-Gils Julien, Villéga Frédéric, Abi-Warde Marie-Thérèse, Barcia Giulia, Lazaro Leila, Cancés Claude, Chelly Jamel, Karsenty Caroline, Rivera Serge, de Saint-Martin Anne, Trimouille Aurélien, Villard Laurent, Pédespan Jean-Michel

Abstract excerpt

The molecular diagnosis of early-onset epileptic encephalopathy (EOEE), an expanding field in child neurology, is becoming increasingly possible thanks to the widespread availability of next-generation sequencing and whole-exome sequencing. In the past 15 years, mutations in STXBP1, KCNQ2, SCN2A, SCN8A and numerous other genes have been reported, giving a more accurate insight for these rare diseases. Among these...

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Identifiers

PMID: 32694024
DOI: 10.1016/j.ejpn.2020.06.002

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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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