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Article

Carbamazepine responsive episodic dystonia and hallucination due to pyruvate dehydrogenase E2 (DLAT) gene mutation.

Journal of neurogenetics - 1 Jun 2024

Policherla Jasmine, Serajee Fatema J, Rashid Salman, Huq A H M Mahbubul

Abstract excerpt

Pyruvate Dehydrogenase (PDH) E2 deficiency due to Dihydrolipoamide acetyltransferase (DLAT) mutations is a very rare condition with only nine reported cases to date. We describe a 15-year-old girl with mild intellectual disability, paroxysmal dystonia and bilateral basal ganglia signal abnormalities on brain magnetic resonance imaging (MRI). Additionally, neurophysiological, imaging, metabolic and exome...

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Source

Identifiers

PMID: 39007626
DOI: 10.1080/01677063.2024.2372496

Genes

DLAT
PDHA1
PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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