Bi-allelic variants in <i>CHKA</i> cause a neurodevelopmental disorder with epilepsy and microcephaly
Chiara Klöckner(Leipzig University), Konrad Platzer(Leipzig University), Maha S. Zaki(National Research Centre), Elisa Calì(National Hospital for Neurology and Neurosurgery), Katta M. Girisha(Manipal Academy of Higher Education), Anju Shukla(Manipal Academy of Higher Education), Parneet Kaur(Manipal Academy of Higher Education), Stéphanie Efthymiou(Queen Mary University of London), Kamrun Nahar(International Centre for Diarrhoeal Disease Research), Mahmoud M. Noureldeen(Beni-Suef University), Dhanya Lakshmi Narayanan(Manipal Academy of Higher Education), Michael C. Kruer(Barrow Neurological Institute), Andreas Merkenschlager(University Hospital Leipzig), Christopher R. McMaster(Dalhousie University), Gisela Stoltenburg‐Didinger(Charité - Universitätsmedizin Berlin), Mahtab Tavasoli(Dalhousie University), Janina Gburek‐Augustat(University Children's Hospital Tübingen), Alex M. Pagnozzi(Australian e-Health Research Centre), Heinrich Sticht(Friedrich-Alexander-Universität Erlangen-Nürnberg), Jason G. Williams(National Institute of Environmental Health Sciences), J. Pedro Fernández-Murray(Dalhousie University), Rami Abou Jamra(Leipzig University), Selina Banu(National Hospital for Neurology and Neurosurgery), Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Hossein Darvish(University of Social Welfare and Rehabilitation Sciences), Saghar Ghasemi Firouzabadi(University of Social Welfare and Rehabilitation Sciences), Somayeh Bakhtiari(Barrow Neurological Institute), Leila Motlagh Scholle
Cited by 14
Related Papers
Genome-wide association study reveals genetic risk underlying Parkinson's disease
|Nature Genetics|2009|2k
Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies
|The Lancet Neurology|2014|615