Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly-Reference-Cited by-同舟云学术

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Published:2014-12-30 Issue:8 Volume:24 Page:2218-2227
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Hardies Katia¹²,May Patrick³⁴,Djémié Tania¹²,Tarta-Arsene Oana⁵⁶,Deconinck Tine¹²,Craiu Dana⁵⁶,Helbig Ingo⁷⁸,Suls Arvid¹²,Balling Rudy³,Weckhuysen Sarah¹²,De Jonghe Peter¹²⁹,Hirst Jennifer¹⁰,Afawi Zaid,Barisic Nina,Baulac Stéphanie,Caglayan Hande,Depienne Christel,De Kovel Carolien G.F.,Dimova Petia,Guerrero-López Rosa,Guerrini Renzo,Hjalgrim Helle,Hoffman-Zacharska Dorota,Jahn Johanna,Klein Karl Martin,Koeleman Bobby P.C.,Leguern Eric,Lehesjoki Anna-Elina,Lemke Johannes,Lerche Holger,Marini Carla,Muhle Hiltrud,Rosenow Felix,Serratosa Jose M.,Møller Rikke S.,Stephani Ulrich,Striano Pasquale,Talvik Tiina,Von Spiczak Sarah,Weber Yvonne,Zara Federico, ,

Affiliation:

1. Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium,

2. Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium,

3. Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg,

4. Institute for Systems Biology, Seattle, USA,

5. Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania,

6. Department of Neurology, Pediatric Neurology, Psychiatry, Child and Adolescent Psychiatry, and Neurosurgery, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania,

7. Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany,

8. Division of Neurology, The Children's Hospital of Philadelphia, Philadephia, USA,

9. Division of Neurology, Antwerp University Hospital, Antwerp, Belgium and

10. Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/24/8/2218/14147560/ddu740.pdf

Reference47 articles.

1. Recent advances in the molecular genetics of epilepsy;Hildebrand;J. Med. Genet.,2013