A Novel Loss of Function Variant in HCN1 Gene Underlies Early Infantile Epileptic Encephalopathy 24 [EIEE24]
This evidence backs the idea that HCN1 has a vital role in brain development and lose of function can cause a range of debilitating conditions. Still, the functional characterization study of the <i>HCN1</i> variants will be the fundamental tool for a better understanding of EIEE in the near future.
Authors
- Mujahid
- Thamir M. Eid (ORCID: https://orcid.org/0000-0001-9513-8202)
- Qamre Alam (ORCID: https://orcid.org/0000-0001-8980-2437)
- Ibrahim Abdullah Almazni (ORCID: https://orcid.org/0000-0002-9408-967X)
- Ahmed Waqas (ORCID: https://orcid.org/0000-0002-4518-9682)
- Abdullah Hamadi (ORCID: https://orcid.org/0000-0002-1095-5455)
- Suhail Razak (ORCID: https://orcid.org/0000-0003-2167-8630)
- Muhammad Umair (ORCID: https://orcid.org/0000-0001-6729-9746)
- Gohar Zaman
- Mohammad Alanazi (ORCID: https://orcid.org/0000-0001-6766-3237)
- Tayyaba Afsar (ORCID: https://orcid.org/0000-0003-3181-5731)
Institutions
- University of Bahrain (BH)
- King Abdulaziz University (SA)
- King Saud bin Abdulaziz University for Health Sciences (SA)
- King Saud University (SA)
- Abbottabad University of Science and Technology (PK)
- King Abdullah International Medical Research Center (SA)
- King Salman Center for Disability Research (SA)
- Department of Livestock Development (TH)
- National Guard Health Affairs (SA)
- Najran University (SA)
- University of Tabuk (SA)
- University of Management and Technology (PK)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-10-09
- DOI
- https://doi.org/10.1159/000541117
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- King Salman Center for Disability Research
- Stanford Bio-X