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