Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

Chiara Klöckner, J. Pedro Fernández-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-AugustatElisa Cali, Selina Banu, Kamrun Nahar, Stephanie Efthymiou, Henry Houlden, Rami Abou Jamra, Jason Williams, Christopher R. McMaster, Konrad Platzer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology

INIS

Neuroscience

Medicine and Dentistry