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.
Georgia
Tinatin Giuashvili, MD
Neurologist | M.Iashvili Children's Central Hospital, Tbilisi
Prof. Tinatin Tkemaladze, MD, PhD
Clinical Geneticist | Tbilisi State Medical University
Italy
Domenica Immacolata Battaglia, Associate Professor
Neuropsychiatrist | Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome
DomenicaImmacolata.Battaglia@unicatt.it
Poland
Krzysztof Szczaluba, DSc
Clinical Genetist | Children’s Hospital of the University Clinical Center Medical University of Warsaw
krzysztof.szczaluba@wum.edu.pl
Krystyna Szymanska, DSc
Neurologist, Neurological Clinic Director | Children’s Hospital of the University Clinical Center Medical University of Warsaw
Sylwia Czarnecka, MD (on sick leave)
Neurologist | Children’s Hospital of the University Clinical Center Medical University of Warsaw
Spain
María José Sánchez Soler, MD
Clinical Genetist | Hospital Clínico Universitario Virgen de la Arrixaca, Murcia
Switzerland
Prof. Christian M. Korff
Neurologist | Hôpitaux Universitaires de Genève
Ukraine
Oleksandr Miroshnykov, MD, PhD
Neurologist | National Academy of Medical Sciences of Ukraine, Kyiv
United Kingdom
Jenny Higgs
Clinical Geneticist | Liverpool Centre for Genomic Medicine, Liverpool Women’s Hospital
United States
Heather Olson, MD
Neurologist | Boston Children's Hospital, Boston
Heather.Olson@childrens.harvard.edu
Mark P. Fitzgerald, MD PhD
Nuerologist | Epilepsy Neurogenetics Initiative, Children’s Hospital of Philadelphia