Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation
Brain
.
2018 Jun 1;141(6):e50.
doi: 10.1093/brain/awy100.
Authors
Juliette Piard
1
2
,
George K Essien Umanah
3
4
,
Frederike L Harms
5
,
Leire Abalde-Atristain
3
6
,
Daniel Amram
7
,
Melissa Chang
3
4
,
Rong Chen
3
4
,
Malik Alawi
8
9
,
Vincenzo Salpietro
10
,
Mark I Rees
11
,
Seo-Kyung Chung
11
,
Henry Houlden
10
,
Alain Verloes
12
,
Ted M Dawson
3
4
6
13
14
,
Valina L Dawson
3
4
6
13
15
,
Lionel Van Maldergem
1
2
16
,
Kerstin Kutsche
5
Affiliations
1
Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
2
Integrative and Cognitive Neurosciences Research Unit EA481, University of Franche-Comté, Besançon, France.
3
Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
4
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
5
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
6
Cellular and Molecular Medicine Graduate Program, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
7
Unité fonctionnelle de génétique clinique, Centre hospitalier intercommunal, Créteil, France.
8
University Medical Center Hamburg-Eppendorf, Bioinformatics Core Facility, 20246 Hamburg, Germany.
9
Heinrich-Pette-Institute, Leibniz-Institute for Experimental Virology, Virus Genomics, Hamburg, Germany.
10
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
11
Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea, UK.
12
Department of Genetics, Robert-Debré Hospital, Paris, France.
13
Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
14
Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
15
Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
16
Clinical Investigation Center 1431, National Institute of Health and Medical Research (INSERM), University of Franche-Comté, Besançon, France.
PMID:
29659731
PMCID:
PMC5972662
DOI:
10.1093/brain/awy100
No abstract available
Publication types
Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Comment
MeSH terms
Brain Diseases*
Humans
Infant
Muscle Rigidity
Mutation
Receptors, AMPA
Stiff-Person Syndrome*
Substances
Receptors, AMPA
Grants and funding
K01 NS099362/NS/NINDS NIH HHS/United States
T32 GM008752/GM/NIGMS NIH HHS/United States