|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|669||IVS14||c.2589+3A>T||DIIS4||Splice donor site||Del exon 14; LOF||SMEI||De novo||Harkin LA.2007|
|SMEI||De novo||Sun H.2010|
|SME||De novo||Djemie T.2016|
|Epilepsy and/or NDD||NA||Lindy AS.2018|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|14||c.2589+3A>T||p.Val806_Leu863del(V806_L863del)||DIIS4||SMEI||LOF||No measurable sodium current.||Liu Y.2013|
|Number||Intron||Nucleotide change||Phenotype||Details of the abnormal result||Protein change||Reference|
|3||IVS 14||c.2589+3A>T||SMEI||Deletion of exon 14.||p.Val806_Leu863del||Liu Y, Ann Neurol. 2013: 74(1):128-39|
|[c.2589+3A>T] Clinical description|
There was no detail description in article but the female patient had presented with the first seizure at the age of four months, and no family history of convulsion disorder. SMEI was defined according to the following criteria: onset in the first year of life of convulsive seizures which were hemiclonic or generalized; myoclonic seizures; other seizure types which could include focal seizures, absence seizures, atonic seizures, tonic seizures; normal development in the first year of life with subsequent slowing including plateauing or regression; generalized spike-wave activity and either normal MRI or non-specific findings(Harkin LA, et al. Brain. 2007 Mar;130(Pt 3):843-52. ).
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.