Novel Compound Heterozygous P4HTM Variants in a Girl with Developmental and Epileptic Encephalopathy: First Case Report of P4HTM Variant-Associated Epileptic Encephalopathy

HIDEA syndrome (MIM: #618493) is a rare autosomal recessive disorder characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye anomalies. We present the case of a Turkish female with developmental and epileptic encephalopathy, highlighting a novel compound heterozygous variation in the P4HTM gene.

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