SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
690	15	c.2624C>T	p.Thr875Met	DIIS4	Missense	P/O→N (81); G-LOF	PEFS+	Familial(Paternal,FS),P=10/10	Escayg A.2000
690	15	c.2624C>T	p.Thr875Met	DIIS4	Missense	P/O→N (81); G-LOF	SMEB	NA	Wang JW.2012

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
16	c.2624C>T	p.Thr875Met(T875M)	DIIS4	PEFS+ ^f	G-LOF	Small persistent current. Enhanced fast and slow inactivation that may result in reduced current density during long depolarization or repetitive stimulation.	Lossin C.2002; Alekov AK.2001; Spampanato J.2001

Inheritance information:

Number	Nucleotide change	Protein change	Mutation type	Proband's phenotype	1st transmitter's phenotype	Mosaic	Affected generations	Penetrance	Reference
50	c.2624C>T	p.Thr875Met T875M(DIIS4)	Missense	PEFS+	FS(Paternal)		10/10	Depienne C.2009

[c.2624C>T] Clinical description
Seizures were diagnosed in 12 living subjects, including one PEFS+, four GEFS+ (two with atonic seizures), and seven FS. Febrile seizures often lasted for 120 min, without focalization or motor deficiency (except in three relatives), and therefore did not meet complex FS criteria. The mean number of attacks was ~5 (range 2–20). Five family members presented with afebrile seizures associated with FS until their teenage years (mean 11 years). These seizures were generalized or hemicorporeal, tonic-clonic or atonic absence attacks.Neurological examination showed normal findings. Interictal electroencephalograms were normal except in three patients, in whom generalized spike-and-wave discharges arose a few years after the onset of FS.The first seizure occurred sooner in patients with both FS and other types of seizures (mean 5.8 months, range 1-7 months) than in those with FS only (mean 24 months, range 12–36 month).(Moulard B, et al. Am. J. Hum. Genet. 65:1396–1400, 1999. [10521305 ]).

[c.2624C>T] Clinical description

Seizures were diagnosed in 12 living subjects, including one PEFS+, four GEFS+ (two with atonic seizures), and seven FS. Febrile seizures often lasted for 120 min, without focalization or motor deficiency (except in three relatives), and therefore did not meet complex FS criteria. The mean number of attacks was ~5 (range 2–20). Five family members presented with afebrile seizures associated with FS until their teenage years (mean 11 years). These seizures were generalized or hemicorporeal, tonic-clonic or atonic absence attacks.Neurological examination showed normal findings. Interictal electroencephalograms were normal except in three patients, in whom generalized spike-and-wave discharges arose a few years after the onset of FS.The first seizure occurred sooner in patients with both FS and other types of seizures (mean 5.8 months, range 1-7 months) than in those with FS only (mean 24 months, range 12–36 month).(Moulard B, et al. Am. J. Hum. Genet. 65:1396–1400, 1999. [10521305 ]).

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.