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Article

Expansion of the ARX spectrum.

Clinical neurology and neurosurgery - 1 Jun 2008

Wallerstein Robert, Sugalski Rachel, Cohn Leora, Jawetz Robert, Friez Michael

Abstract excerpt

We present four patients with ARX mutations and widely variant clinical presentations. Case 1, a female with a known ARX mutation has refractory infantile spasms and severe mental retardation. Case 2, a male presented with a neurodegenerative disorder and has a known ARX mutation likely de novo as mother is not a carrier. Cases 3 and 4, two siblings with a novel variant in ARX, which is not clearly pathogenic,...

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Source

Identifiers

PMID: 18462864
DOI: 10.1016/j.clineuro.2008.03.007

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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