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Article

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.

Epilepsy research - 1 Aug 2008

Poirier Karine, Eisermann Monika, Caubel Isabelle, Kaminska Anna, Peudonnier Sylviane, Boddaert Nathalie, Saillour Yoann, Dulac Olivier, Souville Isabelle, Beldjord Chérif, Lascelles Karine, Plouin Perrine, Chelly Jamel, Bahi-Buisson Nadia

Abstract excerpt

Mutations in the ARX gene are responsible for a wide variety of mental retardation conditions including X-linked infantile spasms (ISSX) and generalized dystonia. However, electroclinical descriptions in patients with ISSX carrying ARX mutations are scarce. Here, we report on the electroclinical features of a 4-year-old boy with an expansion of the trinucleotide repeat in the ARX gene. Epilepsy started at 2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18468866
DOI: 10.1016/j.eplepsyres.2008.03.019

Genes

ARX

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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