Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay-Reference-Cited by-同舟云学术

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Published:2015-05-13 Issue:1 Volume:24 Page:129-134
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Saitsu Hirotomo^ORCID,Fukai Ryoko,Ben-Zeev Bruria,Sakai Yasunari,Mimaki Masakazu,Okamoto Nobuhiko,Suzuki Yasuhiro,Monden Yukifumi,Saito Hiroshi,Tziperman Barak,Torio Michiko,Akamine Satoshi,Takahashi Nagahisa,Osaka Hitoshi,Yamagata Takanori,Nakamura Kazuyuki,Tsurusaki Yoshinori,Nakashima Mitsuko,Miyake Noriko,Shiina Masaaki,Ogata Kazuhiro,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201592.pdf

Reference18 articles.

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2. Berg AT, Berkovic SF, Brodie MJ et al: Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51: 676–685.

3. Coppola G : Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia 2009; 50: 49–51.

4. Ohtahara S, Yamatogi Y : Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. Epilepsy Res 2006; 70: S58–S67.

5. Huff RM, Axton JM, Neer EJ : Physical and immunological characterization of a guanine nucleotide-binding protein purified from bovine cerebral cortex. J Biol Chem 1985; 260: 10864–10871.

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