Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1524c.530G>Ap.Gly177GluDIS2-S3MissenseN→P/﹣(98); LOFSMEIDe novoNabbout R.2003
SMENAVerbeek NE.2013
SMEInUsluer S.2016

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
2c.530G>Ap.Gly177Glu(G177E)DIS2-S3SMEI LOF No measurable sodium current.Ohmori I.2006

[c.530G>A] Clinical description
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 two years of seizure   onset; normal MRI results in the first year of the seizure disorder; and a   minimum follow-up of three years.(Nabbout R, et al. Neurology. 2003 Jun 24; 60(12): 1961-7. [12821740])