| Title: |
Genetic Basis of Hypsarrhythmia: Expanding the PHACTR1 Spectrum and Pathway to Targeted Therapy. |
| Authors: |
Willième, Karen; Dheedene, Annelies; Vanlander, Arnaud; Verloo, Patrick; Verhelst, Helene |
| Source: |
Clinical Genetics; Nov2025, Vol. 108 Issue 5, p612-614, 3p |
| Subject Terms: |
INFANTILE spasms; EPILEPSY; INDIVIDUALIZED medicine; DNA mutational analysis; MOLECULAR genetics; NEURON development; GENES |
| Abstract: |
The article focuses on a case study of a 5-month-old girl with a novel variant in the PHACTR1 gene, who presented with infantile spasms and hypsarrhythmia. The PHACTR1 gene, located on chromosome 6p24.1, encodes a protein involved in neuronal development and interacts with the Slack channel, which is encoded by KCNT1 and linked to epilepsy. Genetic analysis identified a de novo heterozygous missense variant (c.1521G>C, p.(Arg507Ser)) in PHACTR1, categorized as likely pathogenic. The study suggests that this variant may disrupt the interaction between PHACTR1 and Slack, potentially leading to increased channel activity and contributing to the patient's condition. The findings highlight the need for targeted therapies that address this shared pathway. [Extracted from the article] |
| : |
Copyright of Clinical Genetics is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| Database: |
Complementary Index |