A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

Bettina E. Mucha, Siddharth Banka, Norbert Fonya Ajeawung, Sirinart Molidperee, Gary G. Chen, Mary Kay Koenig, Rhamat B. Adejumo, Marianne Till, Michael Harbord, Renee Perrier, Emmanuelle Lemyre, Renee Myriam Boucher, Brian G. Skotko, Jessica L. Waxler, Mary Ann Thomas, Jennelle C. Hodge, Jozef Gecz, Jillian Nicholl, Lesley McGregor, Tobias LindenSanjay M. Sisodiya, Damien Sanlaville, Sau W. Cheung, Carl Ernst, Philippe M. Campeau

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19 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology