Novel mutations inATP1A3associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Author:

Paciorkowski Alex R.12,McDaniel Sharon S.3,Jansen Laura A.4,Tully Hannah56,Tuttle Emily2,Ghoneim Dalia H.2,Tupal Srinivasan4,Gunter Sonya A.4,Vasta Valeria6,Zhang Qing6,Tran Thao6,Liu Yi B.7,Ozelius Laurie J.8,Brashear Allison9,Sweadner Kathleen J.10,Dobyns William B.1112,Hahn Sihoun612

Affiliation:

1. Departments of Neurology, Pediatrics, and Biomedical Genetics; University of Rochester Medical Center; Rochester New York U.S.A

2. Center for Neural Development and Disease; University of Rochester Medical Center; Rochester New York U.S.A

3. Department of Pediatrics; Kaiser Permanente; San Francisco California U.S.A

4. Department of Neurology; University of Virginia; Charlottesville Virginia U.S.A

5. Department of Neurology; University of Washington; Seattle Washington U.S.A

6. Center for Developmental Therapeutics; Seattle Children's Research Institute; Seattle Washington U.S.A

7. Department of Neurosurgery; Massachusetts General Hospital; Boston Massachusetts U.S.A

8. Departments of Genetics, Genomic Sciences, and Neurology; Icahn School of Medicine at Mount Sinai; New York New York U.S.A

9. Department of Neurology; Wake Forest School of Medicine; Winston Salem North Carolina U.S.A

10. Department of Neurosurgery; Massachusetts General Hospital and Harvard Medical School; Boston Massachusetts U.S.A

11. Center for Integrative Brain Research; Seattle Children's Research Institute; Seattle Washington U.S.A

12. Division of Genetic Medicine; Department of Pediatrics; University of Washington; Seattle Washington U.S.A

Funder

National Institute of Neurologic Disorders and Stroke (NINDS)

National Institutes of Health

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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