Article
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Brain : a journal of neurology - 30 Jun 2022
Klöckner Chiara, Fernández-Murray J Pedro, Tavasoli Mahtab, Sticht Heinrich, Stoltenburg-Didinger Gisela, Scholle Leila Motlagh, Bakhtiari Somayeh, Kruer Michael C, Darvish Hossein, Firouzabadi Saghar Ghasemi, Pagnozzi Alex, Shukla Anju, Girisha Katta Mohan, Narayanan Dhanya Lakshmi, Kaur Parneet, Maroofian Reza, Zaki Maha S, Noureldeen Mahmoud M, Merkenschlager Andreas, Gburek-Augustat Janina, Cali Elisa, Banu Selina, Nahar Kamrun, Efthymiou Stephanie, Houlden Henry, Jamra Rami Abou, Williams Jason, McMaster Christopher R, Platzer Konrad
Abstract excerpt
The Kennedy pathways catalyse the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus because four of ten genes involved have been associated with a range of autosomal recessive rare diseases such as a neurodevelopmental disorder with muscular dystrophy (CHKB), bone...
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