Clinical characteristics of patients with P4HTM variant-associated epilepsy and therapeutic exploration: a case report and literature review

The P4HTM gene encodes a transmembrane prolyl 4-hydroxylase, which is responsible for the degradation of hypoxia-inducible transcription factors (HIF) under normoxia. Clinically, biallelic P4HTM variants have been identified in patients with hypotonia, hypoventilation, intellectual disabilities, dys...

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Bibliografische gegevens

Hoofdauteurs:	Yan-Juan Wang, Si-Xiu Li, Wen-Guang Hu, Li-Li Zhao, Mingping Lan, Jia-Lei Chen
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	Frontiers Media S.A. 2024-11-01
Reeks:	Frontiers in Neurology
Onderwerpen:	P4HTM gene epilepsy HIDEA syndrome HIF-1α inhibitor valproate case report
Online toegang:	https://www.frontiersin.org/articles/10.3389/fneur.2024.1428076/full
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