SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
934	18	c.3610T>C	p.Trp1204Arg	DII-DIII	Missense	N→P/﹢(101); GOF	GEFS+	Familial(Paternal,GEFS+),P=5/5	Escayg A.2001
934	18	c.3610T>C	p.Trp1204Arg	DII-DIII	Missense	N→P/﹢(101); GOF	GEFS+	Familial(Paternal,FS)	Marini C.2007

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
28	c.3610T>C	p.Trp1204Arg(W1204R)	DII-DIII (D-linkers)	GEFS+ ^f	GOF	Small persistent current, hyperexcitable (negative) shift of activation curve, hyperexcitable shift of window current (negative shift in both activation and inactivation curve).	Lossin C.2002; Spampanato J.2003

Inheritance information:

Number	Nucleotide change	Protein change	Mutation type	Proband's phenotype	1st transmitter's phenotype	Mosaic	Affected generations	Penetrance	Reference
91	c.3610T>C	p.Trp1204Arg(DII-DIII)	Missense	GEFS+	GEFS+(Paternal)			5/5	Escayg A.2001
91	c.3610T>C	p.Trp1204Arg(DII-DIII)	Missense	GEFS+	FS(Paternal)				Marini C.2007

[c.3610T>C] Clinical description
The four-generation pedigree is presented in article. Six individuals in this family were classified as affected. Individuals III-1, IV-1, and IV-4 reported a history of childhood febrile and afebrile seizures. Individual II-3 had febrile seizures until age five years but did not have afebrile seizures. The proband (IV-3) was diagnosed with severe myoclonic seizures and did not have a history of febrile seizures. A detailed family history indicated that individual II-2 had epilepsy as an adult. The disease status of individual I-2 is unclear. EEG recordings show normal on individuals III-1, sharp slow waves, spike waves and polyspike wave on individuals IV-1, polyspike wave on individuals IV-3, and irregular spike waves on individuals IV-4, respectively. Normal EEG patterns were recorded from the unaffected individuals: III-2, IV-2, and IV-5. Results of neurological examination were normal in all individuals except IV-1, who had mild intellectual disability and severe seizures that resulted in permanent institutional care(Escayg A, et al. Am J Hum Genet. 2001 Apr;68(4):866-73. [11254445]).

[c.3610T>C] Clinical description

The four-generation pedigree is presented in article. Six individuals in this family were classified as affected. Individuals III-1, IV-1, and IV-4 reported a history of childhood febrile and afebrile seizures. Individual II-3 had febrile seizures until age five years but did not have afebrile seizures. The proband (IV-3) was diagnosed with severe myoclonic seizures and did not have a history of febrile seizures. A detailed family history indicated that individual II-2 had epilepsy as an adult. The disease status of individual I-2 is unclear. EEG recordings show normal on individuals III-1, sharp slow waves, spike waves and polyspike wave on individuals IV-1, polyspike wave on individuals IV-3, and irregular spike waves on individuals IV-4, respectively. Normal EEG patterns were recorded from the unaffected individuals: III-2, IV-2, and IV-5. Results of neurological examination were normal in all individuals except IV-1, who had mild intellectual disability and severe seizures that resulted in permanent institutional care(Escayg A, et al. Am J Hum Genet. 2001 Apr;68(4):866-73. [11254445]).

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.