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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Principais autores:	Yan-Juan Wang, Si-Xiu Li, Wen-Guang Hu, Li-Li Zhao, Mingping Lan, Jia-Lei Chen
格式:	Artigo
語言:	Inglês
出版:	Frontiers Media S.A. 2024-11-01
叢編:	Frontiers in Neurology
主題:	P4HTM gene epilepsy HIDEA syndrome HIF-1α inhibitor valproate case report
在線閱讀:	https://www.frontiersin.org/articles/10.3389/fneur.2024.1428076/full
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