ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation-Reference-Cited by-同舟云学术

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

Published:2018-04-12 Issue:6 Volume:141 Page:e49-e49
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Wolf Nicole I¹^ORCID,Zschocke Johannes²,Jakobs Cornelis³,Rating Dietz⁴,Hoffmann Georg F⁵

Affiliation:

1. Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands

2. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

3. Department of Clinical Chemistry, VU Medical Center, Amsterdam, The Netherlands

4. Pediatric Neurology, University Children’s Hospital, Heidelberg, Germany

5. Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, and Center for Rare Disorders, Heidelberg University Hospital, Heidelberg, Germany

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/141/6/e49/24854908/awy095.pdf

Reference6 articles.

1. Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1;Ahrens-Nicklas;Neurol Genet,2017

2. Stiff-Baby-like syndrome with severely diminished GABA in CSF—a defect of glutamic acid decarboxylase?;Hoffmann;Ped Res,1994

3. A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephaopathy;Piard;Brain,2018

4. Axons to exons: the molecular diagnosis of rare neurological diseases by next-generation sequencing;Warman Chardon;Curr Neurol Neurosci,2015

5. AMPA receptor inhibitors for the treatment of epilepsy: the role of perampanel;Zaccara;Expert Rev Neurother,2013

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