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Article

X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.

Journal of neurology - 1 Jun 2005

Brockmann Knut, Dumitrescu Alexandra M, Best Thomas T, Hanefeld Folker, Refetoff Samuel

Abstract excerpt

We previously reported two unrelated boys aged 3 and 8 years with mutations in the thyroid hormone transporter gene MCT8 resulting in severe global retardation and an uncommon pattern of thyroid hormone abnormalities. We now further describe an unusual neurological phenotype associated with these mutations, namely paroxysmal kinesigenic dyskinesias (PKD), provoked by certain stimuli including changing of their...

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Identifiers

PMID: 15834651
DOI: 10.1007/s00415-005-0713-3

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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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