Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
75115c.2837G>Ap.Arg946HisDIIS5-S6MissenseP/﹢→P/﹢(29); LOF PEFS+De novoLiao WP.2010
SMEBNAFukuma G.2004
SMEBDe novoHarkin LA.2007
SMEI1De novo;1NADepienne C.2009
SMEIDe novoZuberi SM.2011
SMEINAVerbeek NE.2011
SMEI3NAVolkers L.2011
SMBNAWang JW.2012
SMENAVerbeek NE.2013
SMENAVilleneuve N.2014
Epilepsy and/or NDDNALindy AS.2018

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
20c.2837G>Ap.Arg946His(R946H)DIIS5-S6PEFS+ LOF No measurable sodium current .Liao WP.2010

[c.2837G>A] Clinical description

The first seizure of the female patient, 16-years-old, was presented with generalized tonic clonic seizures with fever at the age of six months. FS then occurred every one–five months with the same duration. Afebrile seizures occurred at the age of two years and three months, and disappeared one year later. The patient had a partial seizure that began from the left face and evolved to unilateral and then generalized from eight years three months of age. The patient has been seizure free for 4 years with VPA of 800 mg/day and TPM of 62.5 mg/day (body weight, 52 kg). During therapy, aferible seizures may be aggravated by LTG and CBZ. The patient was born in good condition after a full-term pregnancy. Her early developmental milestones were normal, and her IQ on the Wechsler Intelligence Scale for Children (WISC) was 73 at age 9. The general and neurologic examinations were normal. Magnetic resonance imaging (MRI) brain scan at 8 years of age showed slight atrophy of the hippocampus on both sides, more apparent on the right. The first routine electroencephalography (EEG) at the age of 1 year and 6 months showed sharp waves in the left central area. EEG at two years and four months showed extremely high (>300μV) sharp waves, maximally in the right temporal area. The EEGs became normal with the achievement of seizure control(Liao WP,et al. Epilepsia. 2010 Sep;51(9):1669-78. [20550552]).