Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
---|---|---|---|---|---|---|---|---|---|
575 | 12 | c.2134C>T | p.Arg712X | DI-DII | Nonsense | Haploinsufficiency;LOF | SMEI | NA | Sugawara T.2002 |
SMEI | De novo | Ohmori I.2002 | |||||||
SMEI | Familial(Maternal,mosaic,asympt),P=1/1 | Depienne C.2009,2010 | |||||||
SMEI | 2De novo;2NA | Depienne C.2009,2010 | |||||||
SMEI | 1De novo;1NA | Fukuma G.2004 | |||||||
SMEI/Unclassified | 2De novo;3NA | Zuberi SM.2011 | |||||||
SMEI | De novo | Wang JW.2012 | |||||||
IE | NA | Wang JW.2012 | |||||||
SMEI | De novo | Wang JW.2012 | |||||||
SMEI | NA | Wang JW.2012 | |||||||
SME+AE | NA | Okumura A.2012 | |||||||
SME | NA | Moehring J.2013 | |||||||
SME | NA | Lee HF.2014 | |||||||
SME | NA | Xu X.2014 | |||||||
Epilepsy and/or NDD | NA | Lindy AS.2018 |
Functional information:
Number | Nucleotide change | Protein change | Location | Phenotype | Functional defect type | Details of the major biophysical abnormalities. | Reference |
---|---|---|---|---|---|---|---|
10 | c.2134C>T | p.Arg712X(R712X) | DI-DII (D-linkers) | SMEI | LOF | Extremely small Na+ currents, generate non-functional channel. | Sugawara T.2003 |
Inheritance information:
Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
---|---|---|---|---|---|---|---|---|---|
63 | c.2134C>T | p.Arg712X(DI-DII) | Nonsense | SMEI | No symptom(Maternal) | Mosaic(~23%) | 2 | 1/1 | Depienne C.2010 |
[c.2134C>T] Clinical description |
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The first seizure of the male patient, 24-years-old, was presented with generalized tonic clonic seizures at the age of seven months. Thereafter the patient occurred other seizures including absence seizures from three years old, myoclonia from three to seven years old, and generalized tonic clonic seizures with yearly. The patient had severe mental decline and ataxia. The patient's paternal aunt had febrile convulsionre. The CT was normal. The electroencephalogram analysis showed poly spike-wave complex, sharp waves in frontal region(Sugawara T,et al. Neurology. 2002 Apr 9;58(7): 1122-4. [11940708]). |
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.