Associated Papers
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
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
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