Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
---|---|---|---|---|---|---|---|---|---|
983 | 19 | c.3733C>T | p.Arg1245X | DIIIS1-S2 | Nonsense | Haploinsufficiency;LOF | SMEI | De novo | Nabbout R.2003 |
SMEI | De novo | Harkin LA.2007 | |||||||
SMEI | 1De novo;1NA | Depienne C.2009 | |||||||
SMEI | 1De novo;1NA | Zuberi SM.2011 | |||||||
SMEI | NA | Arlier Z.2010 | |||||||
SME | NA | Craig AK.2012 | |||||||
SME | NA | Moehring J.2013 | |||||||
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 |
---|---|---|---|---|---|---|---|
29 | c.3733C>T | p.Arg1245X(R1245X) (Arg1234X,R1234X) | DIII S1-S2 | SMEI | LOF | Do not generate Na+ current; slow down recovery from fast inactivation. | Bechi G.2012 |
[c.3733C>T] Clinical description |
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No detail description in article. Files of current patients with SMEI at participating centers were reviewed by a panel of experts who selected those who fulfilled the following criteria: no history of acquired brain injury; normal cognitive and motor development before seizure onset; onset of febrile or afebrile seizures, generalized or unilateral, before age 1 year; myoclonic jerks; intractable epilepsy; psychomotor delay within 2 years of seizure onset; normal MRI results in the first year of the seizure disorder; and a minimum follow-up of 3 years(Nabbout R, et al. Neurology. 2003 Jun 24; 60(12): 1961-7. [12821740]). |
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.