Associated Papers
Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.
Alomarı O et al.
Seizure, 2025
Clinical characteristics of patients with P4HTM variant-associated epilepsy and therapeutic exploration: a case report and literature review.
Wang YJ et al.
Frontiers in Neurology, 2024
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.
Hay E et al.
European Journal of Human Genetics : Ejhg, 2021
Further delineation of HIDEA syndrome.
Maddirevula S et al.
American Journal of Medical Genetics. Part A, 2020
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Rahikkala E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Structure of transmembrane prolyl 4-hydroxylase reveals unique organization of EF and dioxygenase domains.
Myllykoski M et al.
The Journal of Biological Chemistry, 0
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