SCN1A mutation database!

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
26	c.3032A>T	p.Asn1011Ile(N1011I)	DII-DIII (D-linkers)	ICEGTC	pLOF	Reduced current density, negative shift of inactivation.	Rhodes TH.2005

[c.3032A>T] Clinical description
The N1011I and T808S mutation come from the same patient. The first seizure of the male patient, three-years-old, was presented with hemiclonic seizures at the age of nine months. Thereafter the patent occurred generalised tonic lonic seizures with monthly after the age of one year. The patient had moderate mental decline and hyperkinetic. There had no familial history of epilepsy. The CT scan was normal and the electroencephalogram analysis showed rare sharp waves in left temporal region(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

[c.3032A>T] Clinical description

The N1011I and T808S mutation come from the same patient. The first seizure of the male patient, three-years-old, was presented with hemiclonic seizures at the age of nine months. Thereafter the patent occurred generalised tonic lonic seizures with monthly after the age of one year. The patient had moderate mental decline and hyperkinetic. There had no familial history of epilepsy. The CT scan was normal and the electroencephalogram analysis showed rare sharp waves in left temporal region(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

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.