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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.

PACS2RF_coverage map.png

Georgia

Tinatin Giuashvili, MD

Neurologist | M.Iashvili Children's Central Hospital, Tbilisi

tikagiuashvili@yahoo.com

Prof. Tinatin Tkemaladze, MD, PhD

Clinical Geneticist | Tbilisi State Medical University

t.tkemaladze@tsmu.edu

Poland

Krzysztof Szczaluba, DSc 
Clinical Genetist | Children’s Hospital of the University Clinical Center Medical University of Warsaw

krzysztof.szczaluba@wum.edu.pl 

Sylwia Czarnecka, MD 

Neurologist | Children’s Hospital of the University Clinical Center Medical University of Warsaw

sylwia.szymanska@uckwum.pl

Spain

María José Sánchez Soler, MD

Clinical Genetist | Hospital Clínico Universitario Virgen de la Arrixaca, Murcia 

mj.sanchezsoler@gmail.com

Switzerland

Prof. Christian M. Korff

Neurologist | Hôpitaux Universitaires de Genève

Christian.Korff@hcuge.ch

Ukraine

Oleksandr Miroshnykov, MD, PhD

Neurologist | National Academy of Medical Sciences of Ukraine, Kyiv

a.mirosh@ukr.net

United Kingdom

Jenny Higgs

Clinical Geneticist | Liverpool Centre for Genomic Medicine, Liverpool Women’s Hospital

Lwft.clingen@nhs.net

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

ENGIN@chop.edu

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