Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
669IVS14c.2589+3A>T DIIS4Splice donor siteDel exon 14; LOFSMEIDe novoHarkin LA.2007
SMEIDe novoSun H.2010
SMEINAWang JW.2012
SMEINAWang JW.2012
IENAWang JW.2012
SMENAXu X.2014
SMEDe novoDjemie T.2016
Epilepsy and/or NDDNALindy AS.2018

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
14c.2589+3A>Tp.Val806_Leu863del(V806_L863del) DIIS4SMEI LOF No measurable sodium current. Liu Y.2013

Functional information:
NumberIntronNucleotide changePhenotypeDetails of the abnormal resultProtein changeReference
3IVS 14 c.2589+3A>TSMEIDeletion of exon 14.p.Val806_Leu863delLiu 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. [17347258]).