The map illustrates the distribution of documented cases of PACS2 syndrome (related to PACS2 mutation c.625G>A (p.Glu209Lys) or c.631G>A (p.Glu211Lys)).
Below, you'll find the contact information for physicians who are providing care for impacted patients.
Feel free to reach out to us if you need to add any additional physicians.
Tinatin Giuashvili, MD
Neurologist | M.Iashvili Children's Central Hospital, Tbilisi
Prof. Tinatin Tkemaladze, MD, PhD
Clinical Geneticist | Tbilisi State Medical University
Krzysztof Szczaluba, DSc
Clinical Genetist | Children’s Hospital of the University Clinical Center Medical University of Warsaw
Sylwia Czarnecka, MD
Neurologist | Children’s Hospital of the University Clinical Center Medical University of Warsaw
María José Sánchez Soler, MD
Clinical Genetist | Hospital Clínico Universitario Virgen de la Arrixaca, Murcia
Prof. Christian M. Korff
Neurologist | Hôpitaux Universitaires de Genève
Oleksandr Miroshnykov, MD, PhD
Neurologist | National Academy of Medical Sciences of Ukraine, Kyiv
Clinical Geneticist | Liverpool Centre for Genomic Medicine, Liverpool Women’s Hospital
Heather Olson, MD
Neurologist | Boston Children's Hospital, Boston
Mark P. Fitzgerald, MD PhD
Nuerologist | Epilepsy Neurogenetics Initiative, Children’s Hospital of Philadelphia