RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy-Reference-Cited by-同舟云学术

RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

Published:2014-06 Issue:6 Volume:36 Page:532-536
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Nakayama Tojo,Saitsu Hirotomo,Endo Wakaba,Kikuchi Atsuo,Uematsu Mitsugu,Haginoya Kazuhiro,Hino-fukuyo Naomi,Kobayashi Tomoko,Iwasaki Masaki,Tominaga Teiji,Kure Shigeo,Matsumoto Naomichi

Funder

Ministry of Health, Labor, and Welfare, Japan

Japan Society for the Promotion of Science

Japan Science and Technology Agency

Grant-in-Aid for Scientific Research on Innovative Areas

Foundation of Synapse and Neurocircuit Pathology

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference20 articles.

1. Proximal 4p-deletion: phenotype differs from classical 4p-syndrome;Francke;J Pediatr,1977

2. Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation;White;Am J Med Genet,1995

3. Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature;Chitayat;Am J Med Genet,1995

4. Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome;Uematsu;J Neurol Sci,2012

5. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy;Saitsu;Nat Genet,2008

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