Volume 4, Number 6, December 2018 Neurology.org/NG

A peer-reviewed clinical and translational neurology open access journal

ARTICLE Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy e281

ARTICLE Development of a rapid functional assay that predicts GLUT1 disease severity e297

ARTICLE Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation e289

ARTICLE Amyloid- and tau-PET Imaging in a familial prion kindred e290 Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). Ralph L. Sacco, MD, MS, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published James C. Stevens, MD, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. Tilton, MD, FAAN, Vice President Minneapolis, MN 55415, by Wolters Kluwer Health, Inc. at 14700 Citicorp Drive, Bldg. 3, Hagerstown, MD 21742. Business offices are located at Two Carlayne E. Jackson, MD, FAAN, Secretary Commerce Square, 2001 Market Street, Philadelphia, PA 19103. Production offices are located at 351 West Camden Street, Baltimore, MD 21201-2436. Janis M. Miyasaki, MD, MEd, FRCPC, FAAN, Treasurer © 2018 American Academy of Neurology. Terrence L. Cascino, MD, FAAN, Past President Neurology® Genetics is an official journal of the American Academy of Neurology. Journal website: Neurology.org/ng, AAN website: AAN.com Executive Office, American Academy of Neurology Copyright and Permission Information: Please go to the journal website (www.neurology.org/ng) and click the Permissions tab for the relevant Catherine M. Rydell, CAE, Executive Director/CEO article. Alternatively, send an email to [email protected]. 20l Chicago Ave General information about permissions can be found here: https://shop.lww.com/ journal-permission. Minneapolis, MN 55415 Disclaimer: Opinions expressed by the authors and advertisers are not Tel: 612-928-6000 necessarily those of the American Academy of Neurology, its affiliates, or of the Publisher. The American Academy of Neurology, its affiliates, and the Publisher disclaim any liability to any party for the accuracy, completeness, Editorial Office efficacy, or availability of the material contained in this publication (including drug dosages) or for any damages arising out of the use Patricia K. Baskin, MS, Executive Editor or non-use of any of the material contained in this publication. Kathleen M. Pieper, Senior Managing Editor, Neurology Advertising Sales Representatives: Wolters Kluwer, 333 Seventh Avenue, Lee Ann Kleffman, Managing Editor, Neurology: Genetics New York, NY 10001. Contacts: Eileen Henry, tel: 732-778-2261, fax: 973-215- 2485, [email protected] and in Europe: Craig Silver, tel: +44 Sharon L. Quimby, Managing Editor, Neurology® Clinical Practice 7855 062 550 or e-mail: [email protected]. Morgan S. Sorenson, Managing Editor, Neurology® Neuroimmunology & Neuroinflammation Careers & Events: Monique McLaughlin, Wolters Kluwer, Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103, tel: 215-521-8468, fax: 215- Cynthia S. Abair, MA, Senior Graphics Editor 521-8801; [email protected]. Andrea R. Rahkola, Production Editor, Neurology Reprints: Meredith Edelman, Commercial Reprint Sales, Wolters Kluwer, Two Robert J. Witherow, Senior Editorial Associate Commerce Square, 2001 Market Street, Philadelphia, PA 19103, tel: 215-356-2721; Karen Skaja, Senior Editorial Associate [email protected]; [email protected]. Special projects: US & Canada: Alan Moore, Wolters Kluwer, Two Kaitlyn Aman Ramm, Editorial Assistant Commerce Square, 2001 Market Street, Philadelphia, PA 19103, tel: Kristen Swendsrud, Editorial Assistant 215-521-8638, [email protected]. International: Andrew Wible, Senior Manager, Rights, Licensing, and Partnerships, Wolters Kluwer; Andrea Willgohs, Editorial Assistant tr