Bi-allelic Variants in CHKA Cause a Neurodevelopmental Disorder with Epilepsy and Microcephaly
Chiara Kloeckner,J. Pedro Fernandez Murray,Mahtab Tavasoli,Heinrich Sticht,Gisela Stoltenburg-Didinger,Leila Motlagh Scholle,Somayeh Bakhtiari,Michael C. Kruer,Hossein Darvish,Saghar Ghasemi Firouzabadi,Alex Pagnozzi,Anju Shukla,Katta Mohan Girisha,Dhanya Lakshmi Narayanan,Parneet Kaur,Reza Maroofian,Maha S. Zaki,Mahmoud M. Noureldeen,Andreas Merkenschlager,Janina Gburek-Augustat,Elisa Cali,Selina Banu, Kamrun Nahar,Stephanie Efthymiou,Henry Houlden,Rami Abou Jamra,Jason Williams,Christopher R. McMaster,Konrad Platzer Brain a journal of neurology（2022）
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