Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Alex R. Paciorkowski, Sharon S. McDaniel, Laura A. Jansen, Hannah Tully, Emily Tuttle, Dalia H. Ghoneim, Srinivasan Tupal, Sonya A. Gunter, Valeria Vasta, Qing Zhang, Thao Tran, Yi B. Liu, Laurie J. Ozelius, Allison Brashear, Kathleen J. Sweadner, William B. Dobyns, Sihoun Hahn

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Medicine & Life Sciences