|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1169||26||c.5596G>T||p.Asp1866Tyr||C-terminal||Missense||P/﹣→P/O(160); GOF||GEFS+||Familial(Maternal,GEFS+),P=4/4||Spampanato J.2004|
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|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|52||c.5596G>T||p.Asp1866Tyr(D1866Y)||C-Terminal||GEFS+ f||GOF||Positive shift of fast inactivation due to reduced association with β1 subunit, persistent current.||Spampanato J.2004|
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|Number||Nucleotide change||Protein change||Mutation type||Proband's phenotype||1st transmitter's phenotype||Mosaic||Affected generations||Penetrance||Reference|
|[c.5596G>T] Clinical description|
The pedigree of a small family with four affected members is presented in article. The clinical features of each affected individual are described. Three affected individuals experienced febrile seizures persisting beyond six years of age, followed by onset of non-febrile seizures after the age of six. One affected individual (III-1) experienced afebrile myoclonic and atonic-astatic seizures beginning at the age of three and developed progressive learning disabilities. Her clinical and EEG features were consistent with myoclonic-astatic epilepsy, also known as Doose syndrome, one of the most severe seizure phenotypes identified in families with GEFS+. The fourth affected individual (III-2) continues to have febrile seizures without afebrile seizures, consistent with her young age(Spampanato J, et al. J Neurosci. 2004 Nov 3;24(44): 10022-34. ).
Copyright ©2014 Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University
Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China
Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou 510260, China.