Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
160526c.5295T>Ap.Phe1765LeuDIVS6MissenseN→N (22); LOF PEFS+De novoLiao WP.2010

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
48c.5295T>Ap.Phe1765Leu(F1765L)DIVS6PEFS+ LOF No measurable sodium current.Liao WP.2010

[c.5295T>A] Clinical description

The first seizure of the male patient, 11-years-old, was presented with generalized tonic clonic seizures with fever at the age of ten months. Thereafter the seizure frequency was approximately once a month, and tended to occur at a lower temperatures (even at 37.2℃) and repeatedly during the day and lasted for three min or less. Other seizures occurred including GTCS from the age of  two years and nine months, status epilepticus with every two months, and complex partial seizures with every one week-two months from four years of age. During drug therapy, aferible seizures may be aggravated by LTG and CBZ. After being under observation, the AED doses were adjusted to VPA of 30 mg/kg/day, TPM of 3 mg/kg/day, and clonazepam (CNZ) of 1.5 mg/day. In the years the followed, the CPS disappeared, and SE occurred every two months, mostly accompanied by fever. The patient’s mother had a normal pregnancy and the patient had normal early development. Concerns about his memory and ability to concentrate were raised when he started school at six years of age, with a WISC IQ of 86. His general and neurologic examinations were normal. MRI brain scan at eight years demonstrated focal abnormalities in the left temporal lobe. An early EEG at three years was normal. At seven years and five months, when the seizures worsened, EEG showed general background slowing with a burst of high-voltage, irregular, and asymmetrical generalized spikes and waves with predominance in the bifrontal lobes(Liao WP,et al. Epilepsia. 2010 Sep;51(9):1669-78. [20550552]).