This website provides information on patients with mutations in the KCNA4 gene, including clinical data, molecular data, management, and research options.

Mutations in the KCNA4 gene cause an autosomal recessive disorder characterized by microcephaly, congenital cataract, abnormal striatum, intellectual disability and attention deficit hyperactivity disorder.

This website was created to share and collect information about clinic, management and research projects to deliver more knowledge and provide better treatment to patients with mutations in the KCNA4 gene.

Dr. Namik Kaya, PhD (Senior Scientist, Head, Cognitive Genetics Unit), Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, Riyadh, Saudi Arabia, nkaya@kfshrc.edu.sa

Dr. Mohamed Al-Owain, Consultant, MD ABP ABMG (Clinical Genetics and Clinical Biochemical Genetics) (Deputy Chairman, Medical Genetics Department), Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, alowain@kfshrc.edu.sa

Dr. Dilek Colak, PhD (Senior Scientist, Head, Diseasome Program), Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, dkcolak@gmail.com

Albandary AlBakheet, MSc, Research Associate, Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, Riyadh, Saudi Arabia, abinbakheet@kfshrc.edu.sa

Rawan Almass, MSc, Genetic Counselor, Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, Riyadh, Saudi Arabia, ralmass@kfshrc.edu.sa

Maysoon Alsagob, MSc, Researcher, Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia, malsagob@kacst.edu.sa